Ptch1^dl
Chemically induced Allele Detail

Summary

• Symbol: Ptch1^dl
• Name: patched 1; dogface-like
• MGI ID: MGI:5544595
• Gene: Ptch1 Location: Chr13:63656142-63721274 bp, - strand Genetic Position: Chr13, 32.8 cM
• Alliance: Ptch1^dl page

Abnormal flexure at skull and nasal juncture and forelimb preaxial polydactyly in E18.5 Ptch1^dl/Ptch1^dl 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 details: ENU 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)

Disease models

Expression

In Structures Affected by this Mutation:

17 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: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)