This is spontaneous intronic single nucleotide deletion (a shortening of the homopolymer stretch of AAAA to AAA at Chr5:71,014,639-641 (GRCm38)). It is near a spice acceptor site and causes a substantial decrease in expression at the mRNA and protein levels in homozygous brain, with additional decreases in Gabra1, Gabra3, and Gabra5 transcripts in striatum This allele can be phenoytpically reversed entirely by the correction of this intronic point deletion (see Gabra2C57BL/6J+em1Geh). (J:280223)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
Single point
Recessive
1
3
4

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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