ENU-induced T to C transition at base pair 15,740,332 (v38) on chromosome 16, or base pair 102,890 in the GenBank genomic region NC_000082 within the donor splice site of intron 51. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 132-nucleotide exon 51 (out of 86 total exons), resulting in an in-frame deletion of 44 amino acids beginning after amino acid 2,250 of the protein, which is normally 4128 amino acids long. (J:255217)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
--

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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