Ptch1<mes> Spontaneous Allele Detail MGI Mouse (MGI:1856954)

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Ptch1^mes
Spontaneous Allele Detail

Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Summary

Symbol:	Ptch1^mes
Name:	patched 1; mesenchymal dysplasia
MGI ID:	MGI:1856954
Synonyms:	mes, Ptc^mes
Gene:	Ptch1 Location: Chr13:63656142-63721274 bp, - strand Genetic Position: Chr13, 32.8 cM
Alliance:	Ptch1^mes page

Mutation
origin

Strain of Origin:

CBA/J

Mutation
description

Allele Type:		Spontaneous
Mutation:		Intragenic deletion
		Mutation details: A 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

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:	13 anatomical structure(s)

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:	115 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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