The molecular lesion is at base 490 in ENSMUST00000022195.11, which was mutated from a C to a T in the F1 founder, resulting in a missense amino acid substitution at residue 108, arginine (R) to tryptophan (W), p.R108W. (J:251771)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C3H/HeH x C57BL/6J)F1
Chemically induced
Single point
Dominant
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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