This mutation, discovered among G3 progeny of an ENU treated mouse, comprises a T to C transition at nucleotide position 22723 (Genbank genomic region NC_000081 for linear genomic sequence of Slc45a2), in the fifth of the gene's seven exons. This corresponds to nucleotide 1228 of the transcript and is predicted to result in replacement of serine by proline at amino acid position 378, in the eighth transmembrane domain of the protein (S378P). (J:86521, J:156313)

Basic Information

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