|Institutional Source||Beutler Lab|
|Gene Name||glutamate decarboxylase 1|
|Synonyms||GAD25, GAD67, Gad-1, Z49976, GAD44, EP10|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7941 (G1)|
|Chromosomal Location||70553072-70602014 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 70594585 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000092539 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000094934]|
|Predicted Effect||probably null
|Meta Mutation Damage Score||0.9756|
|Coding Region Coverage||
|Validation Efficiency||98% (43/44)|
FUNCTION: The protein encoded by this gene is an enzyme that catalyzes the production of gamma-aminobutyric acid from L-glutamic acid. Alternative splicing of this gene results in two products, the predominant 67 kDa isoform and a smaller 25 kDa isoform. The smaller isoform is not thought to retain catalytic activity. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for targeted null mutations die at birth with cleft palate and apnea and exhibit reduced levels of glutamic acid decarboxylase and gamma-aminobutyric acid in the cerebral cortex. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gad1||
(F):5'- TGTCCAGATGTCTCTTAGAGGG -3'
(R):5'- TTGCTTTCCACATCAGCCAG -3'
(F):5'- CAGTGAGGCCCTTGTTTTAGACATC -3'
(R):5'- TCAGCCAGAACTTGAAGATGTC -3'