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A T to C mutation was identified at position +2 of intron 6. This results in retention of intron 6 in the transcript and 23 novel amino acids followed by a premature stop codon. RT-PCR analysis showed that homozygous mutant eyes contain only ~25% of wild-type mRNA levels. Immunoblot analysis confirmed decreased protein level in mutant retinae and kidneys, indicating that this is a hypomorphic allele. (J:199483)
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
