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Ptch1dl
Chemically induced Allele Detail
Nomenclature
Symbol: Ptch1dl
Name: patched 1; dogface-like
MGI ID: MGI:5544595
Gene: Ptch1  Location: Chr13:63656142-63721274 bp, - strand  Genetic Position: Chr13, 32.8 cM
Abnormal flexure at skull and nasal juncture and forelimb preaxial polydactyly in E18.5 Ptch1dl/Ptch1dl mutants

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

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a point mutation (G to A) at the 3' end of exon 13 within the splice donor sequence that results in the aberrant joining of exon 12 to exon 14, a frame shift mutation and a premature stop codon 9 amino acids into the exon 14 sequence. This allele is hypomorphic. (J:204468)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 21 anatomical structures
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:  88 strains or lines available
References
Original:  J:204468 Feng W, et al., The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects. Genesis. 2013 Oct;51(10):677-89
All:  1 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
05/17/2022
MGI 6.19
The Jackson Laboratory