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The mutation is an insertion of 81 bp of sequence with homology to a LINE L1 element in exon 10 of the gene. RT-PCR and sequencing analysis demonstrated that this results in aberrant splicing of the transcript such that the first 30 nt encoded by exon 10 are missing in the mRNA. The predicted protein from this allele would lack the carboxy-terminal portion of the second transmembrane motif. (J:69983)
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
