T to C transition at base pair 46,307,720 (v38) on chromosome 19, or base pair 3,743 in the GenBank genomic regionNC_000085.The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 159-base pair exon 8. The mutation would cause an in-frame deletion of 53 amino acids beginning after amino acid 168 of the protein, which is normally 899 amino acids in length. (J:274960)

Basic Information

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

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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