|
|
| Nomenclature |
|
Symbol:
|
Bicc1jcpk
|
|
Name:
|
bicaudal C homolog 1 (Drosophila);
juvenile congenital polycystic kidney disease
|
|
MGI ID: |
MGI:1856920 |
|
Synonyms: |
jcpk |
|
Gene:
|
Bicc1
Location:
Chr10:70922832-71159700 bp, - strand
Genetic Position: Chr10,
36.75 cM
|
|
Mutation
origin |
|
Strain of Origin:
|
(101 x C3H)F1
|
|
Mutation
description |
|
Allele
Type: | |
Chemically induced (other) |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: This chlorambucil-induced mutation is a G to A transition in the splice acceptor site of exon 3, and results in the skipping of exon 3 and a frameshift that introduces a premature stop codon in exon 4. (J:82707)
|
|
Inheritance: | |
Recessive |
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
|
Carrying any Bicc1 Mutation:
|
5 strains or lines available |
|
|
Notes |
Mice Heterozygous for This Mutation Display Phenotypic Similarity to Human Syndrome: Adult Dominant Polycystic Kidney Disease (J:23047)
|
| References |
|
Original: |
J:27506
Flaherty L et al.,
"Chlorambucil-induced mutations in mice recovered in homozygotes."
Proc Natl Acad Sci U S A 1992 Apr 1;89(7):2859-63
|
|
All: |
8 reference(s)
|
|
Analysis Tools
