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An 841 bp deletion spans from the proximal promoter region into intron 1. A 41 bp insertion, of which the first 39 bp are a duplication of intron 1 sequence downstream of the deletion site, takes the place of the deleted sequence. The deleted exon 1 contains the translation start site. RT-PCR indicates that aberrant transripts, containing intron 1 sequence, are transcribed from this allele. (J:241031)
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
