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This allele contains a 984 bp deletion from position 1246-2193 (amino acids 416-732) of the coding sequence. The deletion does not alter the reading frame of the gene. Truncated transcripts were detected by Northern blot analysis, but Western blot failed to detect protein product.
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
