Ptch1^tm1Zim
Targeted Allele Detail

Summary

• Symbol: Ptch1^tm1Zim
• Name: patched 1; targeted mutation 1, Andreas Zimmer
• MGI ID: MGI:1857935
• Synonyms: Ptc1-, Ptc1^neo67, ptch^neo67, ptc^neo67
• Gene: Ptch1 Location: Chr13:63656142-63721274 bp, - strand Genetic Position: Chr13, 32.8 cM
• Alliance: Ptch1^tm1Zim page

Kinked tail, omphalocele, and abnormal skull shape in Ptch1^dl/Ptch1^tm1Zim embryos

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:47421
• Parent Cell Line: MPI-II (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 6 and 7 were replaced by the insertion of neomycin selection cassette. Southern blot analysis confirmed the targeting event. (J:47421)

Disease models

Expression

In Mice Carrying this Mutation:	36 assay results
In Structures Affected by this Mutation:	9 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Ptch1^tm1Zim

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:47421 Hahn H, et al., Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome [see comments]. Nat Med. 1998 May;4(5):619-22
• All: 46 reference(s)