Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

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.

Germline Transmission:	Earliest citation of germline transmission: J:156371
Parent Cell Line:	AB2.2 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1b-m2

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exon 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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

6 anatomical structure(s)

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

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:	3 reference(s)