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Ptch1mes
Spontaneous Allele Detail
Nomenclature
Symbol: Ptch1mes
Name: patched 1; mesenchymal dysplasia
MGI ID: MGI:1856954
Synonyms: mes, Ptcmes
Gene: Ptch1  Location: Chr13:63656142-63721274 bp, - strand  Genetic Position: Chr13, 32.8 cM
Mutation
origin
Strain of Origin:  CBA/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA 32bp deletion causes a frameshift mutation, which generates a truncated protein with an aberrant 68-amino acid stretch in the C terminal cytoplasmic domain. (J:72380)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 14 assay results
In Structures Affected by this Mutation: 15 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Ptch1 Mutation:  88 strains or lines available
References
Original:  J:23861 Sweet HO, et al., Mesenchymal dysplasia (mes). Mouse News Lett. 1988;81:70
All:  13 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
11/30/2021
MGI 6.17
The Jackson Laboratory