Ptch1^tm1Mps
Targeted Allele Detail

Summary

• Symbol: Ptch1^tm1Mps
• Name: patched 1; targeted mutation 1, Matthew P Scott
• MGI ID: MGI:1857447
• Synonyms: LacZ/Ptc, ptc-, Ptc1^-, Ptc1-lacZ, Ptc1^lzki, Ptch-, Ptch1-, Ptch1-lacZ, Ptch^KO1, Ptch^lacZ, ptc-lacZ, Ptc^lacZ, Ptcⁿ
• Gene: Ptch1 Location: Chr13:63656142-63721274 bp, - strand Genetic Position: Chr13, 32.8 cM
• Alliance: Ptch1^tm1Mps page

Skeletal abnormalities in Ptch1^dl/Ptch1^tm1Mps mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:42441
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A construct containing a promoterless lacZ-neo fusion gene was inserted at the start codon and deleted a portion of exon 1 and all of exon 2, which encoded the first transmembrane domain. Expression of the inserted lacZ gene served as an accurate reporter in heterozygotes but was found to be derepressed in homozygous mutant mice. (J:42441)

Disease models

Expression

In Mice Carrying this Mutation:	347 assay results 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	17 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Ptch1^tm1Mps

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:42441 Goodrich LV, et al., Altered neural cell fates and medulloblastoma in mouse patched mutants. Science. 1997 Aug 22;277(5329):1109-13
• All: 336 reference(s)