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An ENU induced A to G mutation within exon 1 (nt 464) results in a glycine to aspartic acid missense mutation at codon 140. The substituted residue falls within the extracellular domain and is highly conserved across species. RT-PCR analysis indicated that the mutation does not significantly affect transcript levels. (J:85461)
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
