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EN
ENU mutagenesis induced a T to C transition at nucleotide 251 (NM_133832) that results in the amino acid substitution of arginine for cystinine. This mutation is predicted to disrupt the first beta strand of the protein. Residual Retinoic Acid signaling is detected in the trunk neural tube indicating this is a severely hypomorphic allele. (J:121229, J:185330)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
