|Institutional Source||Beutler Lab|
|Gene Name||microcephaly, primary autosomal recessive 1|
|Synonyms||BRIT1, D030046N04Rik, 5430437K10Rik|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||RF002 (G1)|
|Chromosomal Location||18595131-18803189 bp(+) (GRCm38)|
|Type of Mutation||small insertion (1 aa in frame mutation)|
|DNA Base Change (assembly)||CCTG to CCTGCTG at 18652529 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000119267 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039412] [ENSMUST00000124910] [ENSMUST00000141244]|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mcph1||
(F):5'- TTGAATCTGGCTACGGGAAG -3'
(R):5'- AAGAGGTCTTGACTGCCATC -3'
(F):5'- AGCCTGAATAGTACCCTGTGG -3'
(R):5'- TCAAGGGCCAAAGGACTTTAAC -3'