This ENU induced mutation has been identified as a C-to-T transition in exon 3, at nucleotide position 1042 of the cDNA sequence (transcript Scd2-201; ENSMUST00000026221), resulting in replacement of one codon for serine (AGC) by another (AGT) at amino acid position 109 of the protein (S109S) (NCBI m37, Ensembl build 62).

Basic Information

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