|Institutional Source||Beutler Lab|
|Gene Name||caspase 9|
|Synonyms||ICE-LAP6, Mch6, Caspase-9|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6137 (G1)|
|Chromosomal Location||141793612-141815976 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 141805349 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000121331 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030747] [ENSMUST00000097805] [ENSMUST00000153094]|
|Meta Mutation Damage Score||0.9756|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
FUNCTION: This gene is part of a family of caspases, aspartate-specific cysteine proteases well studied for their involvement in immune and apoptosis signaling. This protein, the initiator caspase, is activated after cytochrome c release from mitochondria and targets downstream effectors. In mouse, deficiency of this gene can cause perinatal lethality. This protein may have a role in normal brain development. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous targeted mutants die perinatally with enlarged and malformed cerebrums caused by reduced apoptosis during brain development. Broad system- and stimulus-dependent effects are seen on apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Casp9||
(F):5'- AAGATGGCATGCAGTTCTCTC -3'
(R):5'- ATACCTTGGCAGTCAGGTCG -3'
(F):5'- GATGGCATGCAGTTCTCTCAGTTC -3'
(R):5'- GGCAGTCAGGTCGTTCTTCAC -3'