scholarly journals The induction of tail malformations in trisomy 16 mouse fetuses heterozygous for the curly tail recessive gene

1990 ◽  
Vol 55 (1) ◽  
pp. 27-32 ◽  
Author(s):  
John Anthony Crolla ◽  
Sarah Katrine Lakeman ◽  
Mary J. Seller
Keyword(s):  
Autosomal Recessive ◽  
Recessive Gene ◽  
Incomplete Penetrance ◽  
Significant Delay ◽  
Trisomy 16 ◽  
Stage Of Development ◽  
Posterior Neuropore ◽  
Curly Tail ◽  
Mouse Fetuses ◽  
Experimental Crosses

SummaryThe mouse mutant curly tail is thought to be inherited as an autosomal recessive (ct/ct) with incomplete penetrance so that approximately 60% of ct/ct individuals exhibit the curly tail (CT) phenotype. By outcrossing ct/ct with mouse stock carrying specific heterozygous combinations of Robertsonian (Rb) chromosomes, trisomy 16 (Ts16) and Ts19 mouse fetuses (and their chromosomally balanced littermates) were derived which were heterozygous for the ct gene. All of the Ts16 (ct/Rb;Rb) fetuses, studied between days 14–19 gestation had tail malformations, 86% of which were tail flexion defects (TFD) apparently very similar to the curly tail phenotype. Neither Ts19 nor any of the chromosomally balanced (ct/Rb) littermates from both experimental crosses showed any type of tail or other spinal malformation. At the 27–29 somite stage of development, Ts16 (ct/Rb;Rb) fetuses did not show any significant delay in the closure of the posterior neuropore (PNP) compared with their littermate controls, suggesting that the tail malformation observed in Ts16 (ct/Rb;Rb) occur as a result of mechanisms which differ significantly from those thought to be responsible to causing the curly tail malformation.

HEREDITARY AND ENVIRONMENTAL FACTORS IN THE PATHOGENESIS OF RHEUMATIC FEVER

PEDIATRICS ◽  
1957 ◽  
Vol 19 (5) ◽  
pp. 908-915
Author(s):  
Eugene F. Diamond
Keyword(s):  
Family History ◽  
Rheumatic Fever ◽  
Autosomal Recessive ◽  
Positive Family History ◽  
Recessive Gene ◽  
Environmental Groups ◽  
Environmental Group ◽  
The Family ◽  
History Of ◽  
Unfavorable Environmental Factor

A study of cases of rheumatic fever admitted to La Rabida Sanitarium over a 5-year period was carried out to evaluate heredity and environment as etiologic factors in rheumatic disease. The incidence of rheumatic fever was shown to be higher in families where one or both parents were known to have a positive family history of rheumatic fever. The incidence of rheumatic fever was compared in environmental groups. A totally unfavorable environment was shown to increase the incidence of rheumatic fever. No single unfavorable environmental factor changed the incidence of rheumatic fever. The incidence of rheumatic fever in each environmental group was higher when there was a positive family history for rheumatic fever, indicating an hereditary factor in the family incidence of rheumatic fever. Analysis of the various mating types in the families with a positive rheumatic trait was carried out. Agreement with a simple autosomal recessive gene inheritance was obtained in families where both parents had a definite family history, but no agreement was obtained in cases where only one parent gave a positive family history.

Genesis and prevention of spinal neural tube defects in the curly tail mutant mouse: involvement of retinoic acid and its nuclear receptors RAR-beta and RAR-gamma

Development ◽  
1995 ◽  
Vol 121 (3) ◽  
pp. 681-691
Author(s):  
W.H. Chen ◽  
G.M. Morriss-Kay ◽  
A.J. Copp
Keyword(s):  
Retinoic Acid ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
In Situ Hybridisation ◽  
Tail Bud ◽  
Retinoic Acid Signalling ◽  
All Trans Retinoic Acid ◽  
Posterior Neuropore ◽  
Computerised Image Analysis ◽  
Curly Tail

A role for all-trans-retinoic acid in spinal neurulation is suggested by: (1) the reciprocal domains of expression of the retinoic acid receptors RAR-beta and RAR-gamma in the region of the closed neural tube and open posterior neuropore, respectively, and (2) the preventive effect of maternally administered retinoic acid (5 mg/kg) on spinal neural tube defects in curly tail (ct/ct) mice. Using in situ hybridisation and computerised image analysis we show here that in ct/ct embryos, RAR-beta transcripts are deficient in the hindgut endoderm, a tissue whose proliferation rate is abnormal in the ct mutant, and RAR-gamma transcripts are deficient in the tail bud and posterior neuropore region. The degree of deficiency of RAR-gamma transcripts is correlated with the severity of delay of posterior neuropore closure. As early as 2 hours following RA treatment at 10 days 8 hours post coitum, i.e. well before any morphogenetic effects are detectable, RAR-beta expression is specifically upregulated in the hindgut endoderm, and the abnormal expression pattern of RAR-gamma is also altered. These results suggest that the spinal neural tube defects which characterise the curly tail phenotype may be due to interaction between the ct gene product and one or more aspects of the retinoic acid signalling pathway.

Neural tube development in mutant (curly tail) and normal mouse embryos: the timing of posterior neuropore closure in vivo and in vitro

Development ◽  
1982 ◽  
Vol 69 (1) ◽  
pp. 151-167
Author(s):  
A. J. Copp ◽  
M. J. Seller ◽  
P. E. Polani
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Mouse Embryos ◽  
Injection Technique ◽  
Posterior Neuropore ◽  
Curly Tail ◽  
Mechanisms Of Development ◽  
Delayed Closure

A dye-injection technique has been used to determine the developmental stage at which posterior neuropore (PNP) closure occurs in normal and mutant curly tail mouse embryos. In vivo, the majority of non-mutant embryos undergo PNP closure between 30 and 34 somites whereas approximately 50% of all mutant embryos show delayed closure, and around 20% maintain an open PNP even at advanced stages of development. A similar result has been found for embryos developing in vitro from the headfold stage. Later in development, 50–60% of mutant embryos in vivo develop tail flexion defects, and 15–20% lumbosacral myeloschisis. This supports the view that delayed PNP closure is the main developmental lesion leading to the appearance of caudal neural tube defects in curly tail mice. The neural tube is closed in the region of tail flexion defects, but it is locally overexpanded and abnormal in position. The significance of these observations is discussed in relation to possible mechanisms of development of lumbosacral and caudal neural tube defects. This paper constitutes the first demonstration of the development of a genetically induced malformation in vitro.

Fetal anasarca (hydrops foetalis) associated with lymphoid tissue agenesis possibly due to an autosomal recessive gene defect in sheep

2002 ◽  
Vol 58 (6) ◽  
pp. 1219-1228 ◽  
Author(s):  
L Monteagudo ◽  
L Luján ◽  
T Tejedor ◽  
S Climent ◽  
C Acı́n ◽  
...  
Keyword(s):  
Lymphoid Tissue ◽  
Autosomal Recessive ◽  
Recessive Gene ◽  
Gene Defect ◽  
Autosomal Recessive Gene

Genetic variation in meat quality and the incidence of malignant hyperthermia syndrome in Large White and Landrace boars

1979 ◽  
Vol 19 (96) ◽  
pp. 43 ◽  
Author(s):  
CP McPhee ◽  
A Takken ◽  
KJ D'Arcy
Keyword(s):  
Genetic Variation ◽  
Malignant Hyperthermia ◽  
Meat Quality ◽  
Autosomal Recessive ◽  
Recessive Gene ◽  
Performance Testing ◽  
Large White ◽  
Ph Values ◽  
Muscle Ph ◽  
Quality Measurements

Genetic variation in meat quality was investigated in Large White and Landrace boars in the Queensland boar performance testing station. An autosomal recessive gene of frequency 0.2 in Landrace but absent in Large White produced malignant hyperthermia syndrome (MHS) in 10 out of 206 Landrace boars given the halothane test. Muscle acidity was measured in 86 Large White and 92 Landrace carcases 1 hour (pH,) and 24 hours (pH,) after slaughter. In four Landrace litters which contained both normal and MHS boars, muscle pH was significantly lower in MHS than normal carcases. Averaged over loin, middle and neck sites of measurement, pH, values were 5.8 vs 6.3 (P < 0.01), and pH, values were 5.5 vs 6.0 (P < 0.05). The colour of the I. dorsi muscles was also paler in MHS than normal carcases (1.25 score points vs 2.5 points, P < 0.05). Excluding MHS carcases, heritability estimates of 0.33 � 0.31,0.46 � 0.30 and 0.3910.29 were obtained for pH,, pH, and colour score of the I. dorsi. There were no significant differences between the breeds in muscle acidity. Average values were 6.44 0 � 0.01 for pH, and 6.11 � 0.02 for pH,. Landrace had paler I. dorsi than Large White (2.6 points vs 2.8 points, P < 0.05). The use of meat quality measurements and the halothane test in selection programs is discussed.

Inheritance of congenital goitre due to a thyroid defection in Merino sheep

1969 ◽  
Vol 20 (3) ◽  
pp. 533 ◽  
Author(s):  
GME Mayo ◽  
CJ Mulhern
Keyword(s):  
Autosomal Recessive ◽  
South Australia ◽  
Recessive Gene ◽  
Merino Sheep ◽  
Variable Expressivity ◽  
Biochemical Studies ◽  
High Penetrance ◽  
Autosomal Recessive Gene

An analysis of data from 599 Merino sheep has provided clear evidence that a condition of goitre, existing on 26 properties spread throughout the more closely settled parts of South Australia, is simply inherited. It is suggested that the condition is due to the action of an autosomal recessive gene whose action shows high penetrance and variable expressivity, and is accompanied by manifold phenotypic effects themselves equally variable in expression. This suggestion accords well with biochemical studies of goitrous sheep taken from among this sample. This study is continuing.

Hereditary hepatitis of LEC rats is controlled by a single autosomal recessive gene

1988 ◽  
Vol 22 (2) ◽  
pp. 166-169 ◽  
Author(s):  
R. Masuda ◽  
M. C. Yoshida ◽  
M. Sasaki ◽  
K. Dempo ◽  
M. Mori
Keyword(s):  
Autosomal Recessive ◽  
Recessive Gene ◽  
Histological Features ◽  
Hepatocellular Carcinomas ◽  
History Of ◽  
Preneoplastic Foci ◽  
Lec Rats ◽  
Autosomal Recessive Gene ◽  
Hepatic Lesions ◽  
One Year

The natural history of hereditary hepatitis in long-survived LEC rats was reported. Among 56 (female: male, 28:28) LEC rats of F30, 16 (8:8) (29%) died of fulminant hepatitis approximately four months after birth. The remaining 40 (20:20) rats that survived more than one year developed chronic hepatitis and subsequent hepatic lesions including hepatocellular carcinomas. Further study made with 32 F31 rats killed at the age of five months revealed that hepatitis occurred in all of these rats. Genetic analysis performed by various crosses of LEC and LEJ rats confirmed the previous result that hereditary hepatitis was caused by a single autosomal recessive gene. F1 hybrid rats never developed hepatitis, showing normal histology of the liver. Histological features of hepatitis in F2 (F1×1) and backcross (F1×LEC) rats were the same as those observed in the LEC rats. The preneoplastic foci also appeared in some of these hybrid rats at the age of eight months. We propose a gene symbol hts to designate the present hepatitis which is assumed to be homozygous in LEC strain rats.

Assays of testis development in the mouse distinguish three classes of domesticus-type Y chromosome

Genome ◽  
1988 ◽  
Vol 30 (6) ◽  
pp. 870-878 ◽  
Author(s):  
Fred G. Biddle ◽  
Yutaka Nishioka
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
House Mouse ◽  
Mus Musculus ◽  
Autosomal Recessive ◽  
Recessive Gene ◽  
Laboratory Strain ◽  
Sex Reversal ◽  
Differential Interaction ◽  
Y Chromosomes

The Y chromosome of Mus musculus poschiavinus interacts with the autosomal recessive gene tda-1b of the C57BL/6J laboratory strain of the house mouse to cause complete or partial sex reversal. Ovaries or ovotestes develop in a substantial proportion of the XY fetuses. Several different Y-specific DNA probes distinguish two major types of Y chromosome in the house mouse and they are represented by M. m. domesticus and M. m. musculus. The poschiavinus Y chromosome appears identical to the domesticus Y. The developmental distribution of the gonad types was examined in the first backcross or N2 generation of fetuses in C57BL/6J with six different domesticus-type Y chromosomes and, as controls, three different musculus-type Y chromosomes. Gonadal hermaphrodites were found with three of the six domesticus-type Y chromosomes. Both overall frequency and phenotypic distribution of types of gonadal hermaphrodites identify three classes of domesticus-type Y chromosome by their differential interaction with the C57BL/6J genetic background.Key words: mouse, Y chromosomes, gonadal hermaphrodites, primary sex determination.

scholarly journals Genetic studies of a new mutant strain showing shivering in the mouse

1996 ◽  
Vol 30 (4) ◽  
pp. 365-368
Author(s):  
X. Guo ◽  
T. Nobunaga ◽  
H. Katoh
Keyword(s):  
Life Span ◽  
Mutant Strain ◽  
Congenic Strain ◽  
Autosomal Recessive ◽  
Recessive Gene ◽  
Donor Strain ◽  
Genetic Studies ◽  
Genetic Analyses ◽  
Autosomal Recessive Gene ◽  
The Cross

A new mutant with shivering, Hula dance Sendai (tentatively named hus gene), was found in the IVCE strain. A congenic strain, C57BL/6JJcl- hus, was established by the cross-intercross method using IVCE- hus as the donor strain and C57BL/6JJcl as the recipient. No significant differences were observed in the age of the onset of shivering and life span between B6- hus and IVCE- hus mice. Genetic analyses demonstrated that this mutation is governed by an autosomal recessive gene ( Mbphus) and is an allele of the Mbpshi gene (Chr.18)

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