ENU-induced G to A transition at base pair 138,101,041 (v38) on chromosome 1, or base pair 74,716 in the GenBank genomic region NC_000067 within the donor splice site of intron 13. 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 156-nucleotide exon 13 (out of 33 total exons), resulting in an in-frame deletion of 52 amino acids (amino acids 421 to 472) of the protein (which is normally 1,293 amino acids long). (J:264808)

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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