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Ptch1wig
Chemically induced Allele Detail
Summary
Symbol: Ptch1wig
Name: patched 1; wiggable
MGI ID: MGI:5004953
Gene: Ptch1  Location: Chr13:63656142-63721274 bp, - strand  Genetic Position: Chr13, 32.8 cM
Alliance: Ptch1wig page
Excessive leaf-like laminae or folia in the brain of E9.5-10.5 Ptch1wig/Ptch1wig embryos resembling a wig

Show the 5 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  129S1/Sv or C57BL/6
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Undefined
 
Mutation detailsThis phenotypic mutant was generated in an ENU mutagenesis screen for early craniofacial development phenotypes. Genome sequencing revealed a T to A nucleotide change in intron 15, which created a new splice acceptor site, resulting in a premature stop codon in exon 16 and generation of a truncated protein. (J:209623)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 23 assay results
In Structures Affected by this Mutation: 19 anatomical structure(s)
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 Ptch1 Mutation:  115 strains or lines available
References
Original:  J:171522 Sandell LL, et al., A phenotype-driven ENU mutagenesis screen identifies novel alleles with functional roles in early mouse craniofacial development. Genesis. 2011 Apr;49(4):342-59
All:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory