Ptch1^mes
Spontaneous Allele Detail

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

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)