ENU-induced T to A transversion at base pair 80,666,578 (v38) on chromosome 11 corresponding to base pair 113,478 in the GenBank genomic region NC_000077 encoding Myo1d. The mutation corresponds to residue 1,768 in the mRNA sequence NM_177390 within exon 12 of 22 total exons. The mutation results in a valine to glutamic acid substitution at position 512 (V512E) in the Myo1d protein. (J:267525)

Basic Information

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

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

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PMID
Journal
Year
IF
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