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This allele has a T to C transition in exon 1, 350 bp downstream of the start codon, causing a leucine to proline substitution at position 117, at the N-terminal junction of the third transmembrane domain. Real-time RT-PCR indicated that mRNA levels are 8-fold higher in homozygous mutants. (J:96941)
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
