ENU mutagenesis induced an A to C transversion at 47016337 bp on chromosome 14 within Samd4 (Fig. 3B). The mutation occurs at 994 bp within the transcript (Vega OTTMUST00000057924) and leads to a histidine to proline substitution at amino acid 86 of the 711 amino acid isoform 1 and the 623 amino acid isoform 2. (J:208616)

Basic Information

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

Title
PMID
Journal
Year
IF
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