Insertional Mutation

2012 ◽  
Keyword(s):  
Insertional Mutation

A novel insertional mutation of a single base in exon 12 of the dystrophin gene

2008 ◽  
Vol 48 (3) ◽  
pp. 128-130 ◽  
Author(s):  
Adriana Lasa ◽  
Pia Gallano ◽  
Jaume Colomer ◽  
Montserrat Baiget
Keyword(s):  
Dystrophin Gene ◽  
Single Base ◽  
Insertional Mutation

Mice homozygous for an insertional mutation in the Zp3 gene lack a zona pellucida and are infertile

Development ◽  
1996 ◽  
Vol 122 (9) ◽  
pp. 2903-2910 ◽  
Author(s):  
T. Rankin ◽  
M. Familari ◽  
E. Lee ◽  
A. Ginsberg ◽  
N. Dwyer ◽  
...  
Keyword(s):  
Zona Pellucida ◽  
Genetic Defect ◽  
Germinal Vesicle ◽  
Cumulus Cells ◽  
Early Embryo ◽  
Preimplantation Embryos ◽  
Germinal Vesicle Breakdown ◽  
Female Mice ◽  
Insertional Mutation ◽  
Homozygous Mutant

Mammalian oocytes synthesize and secrete a zona pellucida that surrounds the growing oocytes, ovulated eggs and preimplantation embryos. The extracellular zona matrix is composed of three glycoproteins (ZP1, ZP2, ZP3) that are involved in folliculogenesis, species-specific fertilization, and passage of the early embryo down the oviduct. We have established a mouse line in which Zp3 has been inactivated by homologous recombination with an insertional mutation. Neither Zp3 transcripts nor ZP3 protein was detected in female mice homozygous for the mutation (Zp3−/−), whereas both ZP1 and ZP2 were present in mutant oocytes. Homozygous mutant Zp3−/− mice had follicles with germinal-vesicle-intact oocytes but that lacked a zona pellucida matrix and had a disorganized corona radiata. Although mutant oocytes underwent germinal vesicle breakdown (GVBD) prior to ovulation, the cumulus-oocyte complex was markedly disrupted and the oocytes were often separate from the cumulus cells. After hormone-induced ovulation, cumulus masses were present in the oviducts of homozygous mutant mice, but zona-free eggs were observed in only half of the females and, in these, less than 10% of the normal number [correction of mumber] of eggs were detected. No zona-free 2-cell embryos were recovered from homozygous mutant Zp3−/− female mice after mating with males proven to be fertile, and none became visibly pregnant or produced offspring. These results demonstrate that a genetic defect in a zona pellucida gene causes infertility and, given the conserved nature of the zona pellucida, a similar phenotype is expected in other mammals.

A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings

2008 ◽  
Vol 79 (12) ◽  
pp. 1395-1398 ◽  
Author(s):  
C Mauro ◽  
G Giaccone ◽  
G Piscosquito ◽  
A Lavorgna ◽  
M Nigro ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Insertional Mutation

scholarly journals Insertional mutation of the hairless locus on mouse Chromosome 14

1993 ◽  
Vol 4 (11) ◽  
pp. 639-643 ◽  
Author(s):  
Julie M. Jones ◽  
James T. Elder ◽  
Karl Simin ◽  
Scott A. Keller ◽  
Miriam H. Meisler
Keyword(s):  
Mouse Chromosome ◽  
Chromosome 14 ◽  
Insertional Mutation

scholarly journals Perturbation of T-cell development by insertional mutation of a PrP transgene

Immunology ◽  
2009 ◽  
Vol 127 (2) ◽  
pp. 226-236 ◽  
Author(s):  
Mark Zabel ◽  
Christina Greenwood ◽  
Alana M. Thackray ◽  
Bruce Pulford ◽  
Willem Rens ◽  
...  
Keyword(s):  
T Cell ◽  
T Cell Development ◽  
Cell Development ◽  
Insertional Mutation

scholarly journals Extending julius seizure, a bang-sensitive gene, as a model for studying epileptogenesis: Cold shock, and a new insertional mutation

Fly ◽  
2017 ◽  
Vol 12 (1) ◽  
pp. 55-61 ◽  
Author(s):  
Derek Dean ◽  
Hannah Weinstein ◽  
Seema Amin ◽  
Breelyn Karno ◽  
Emma McAvoy ◽  
...  
Keyword(s):  
Cold Shock ◽  
Insertional Mutation

Mother-to-child transmission of a hepatitis C virus variant with an insertional mutation in its hypervariable region

1996 ◽  
Vol 25 (5) ◽  
pp. 608-613 ◽  
Author(s):  
Hideki Aizaki ◽  
Akihiko Saito ◽  
Isao Kusakawa ◽  
Yoshihisa Ashiwara ◽  
Seishi Nagamori ◽  
...  
Keyword(s):  
Hepatitis C Virus ◽  
Hepatitis C ◽  
Hypervariable Region ◽  
Mother To Child Transmission ◽  
Child Transmission ◽  
Virus Variant ◽  
Insertional Mutation ◽  
Mother To Child

Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene

Neurology ◽  
2000 ◽  
Vol 55 (3) ◽  
pp. 405-410 ◽  
Author(s):  
G. Rossi ◽  
G. Giaccone ◽  
L. Giampaolo ◽  
S. Iussich ◽  
G. Puoti ◽  
...  
Keyword(s):  
Insertional Mutation ◽  
Jakob Disease ◽  
Prp Gene

scholarly journals Inactivation of the Luteinizing Hormone/Chorionic Gonadotropin Receptor by an Insertional Mutation in Leydig Cell Hypoplasia

1998 ◽  
Vol 12 (11) ◽  
pp. 1651-1660 ◽  
Author(s):  
Shao-Ming Wu ◽  
Karen M. Hallermeier ◽  
Louisa Laue ◽  
Caroline Brain ◽  
A. Caroline Berry ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Chorionic Gonadotropin ◽  
Leydig Cell ◽  
Insertional Mutation ◽  
Gonadotropin Receptor ◽  
Leydig Cell Hypoplasia
Sign in / Sign up

Export Citation Format

Share Document