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Mcph1tm1.2Kali
Targeted Allele Detail
Summary
Symbol: Mcph1tm1.2Kali
Name: microcephaly, primary autosomal recessive 1; targeted mutation 1.2, Kaiyi Li
MGI ID: MGI:4429492
Synonyms: BRIT1-
Gene: Mcph1  Location: Chr8:18645147-18853205 bp, + strand  Genetic Position: Chr8, 10.24 cM, cytoband A3
Alliance: Mcph1tm1.2Kali page
Mcph1tm1.2Kali/Mcph1tm1.2Kali males are infertile and exhibit meiotic defects

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:156371
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 2 was floxed and a FRT flanked neo cassette was added within intron 2 by homologous recombination. The neo cassette was removed by flp mediated recombination. Exon 2 was removed by cre mediated recombination. Protein loss was confirmed by western blot. (J:156371)
Generation of the Mcph1tm1.2Kali allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Mcph1 Mutation:  58 strains or lines available
References
Original:  J:156371 Liang Y, et al., BRIT1/MCPH1 is essential for mitotic and meiotic recombination DNA repair and maintaining genomic stability in mice. PLoS Genet. 2010 Jan;6(1):e1000826
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory