A 97 base pair deletion, including the 3'-most 87 base pairs of exon 5 and 10 base pairs of the flanking intron sequence including the exon/intron splice donor recognition sequence, results in a frame shift and premature stop codon in both Clic5A and Clic5B transcripts, effectively resulting in a null mutation of both transcripts. (J:112741)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/HeJ
Spontaneous
Intragenic deletion
Recessive
1
2
10

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

References Literature

Title
PMID
Journal
Year
IF
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