Sequence analysis on RT-PCR products of mRNA revealed that exon 21 was spliced to exon 23 in frame. The entire coding sequence of exon 22 was absent in mice homozygous for the av6J allele. Protein encoded by this allele would be lacking the extracellular cadherin protein domain due to the loss of 47 amino acids. An allelism test confirmed that the mutation was a new mutation of Pcdh15. (J:111661)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.129P2-Nos2tm1Lau/J
Spontaneous
Intragenic deletion
Recessive
1
10
2

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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