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This spontaneous mutation was identified at The Jackson Laboratory. Sequence analysis of mutant genomic DNA compared with wild type C57BL/6J genomic DNA identified a single nucleotide transition from G to A at nucleotide 24224235 (build NCBI37 or m9). This mutation disrupts the consensus AG dinucleotide of the CAG splice acceptor of the adjacent exon (exon 26 of ENSMUST00000118733). (J:222308)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
