Pthlh^tm1Hmk
Targeted Allele Detail

Summary

• Symbol: Pthlh^tm1Hmk
• Name: parathyroid hormone-like peptide; targeted mutation 1, Henry M Kronenberg
• MGI ID: MGI:2154515
• Synonyms: PTHrP-
• Gene: Pthlh Location: Chr6:147153607-147165511 bp, - strand Genetic Position: Chr6, 78.19 cM, cytoband F-G
• Alliance: Pthlh^tm1Hmk page

Alizarin red S stained skeletal images of hemizygous and homozygous Tg(Col2a1-PTHR1*H223R)AHju and Pthlh^tm1Hmk/Pthlh^tm1Hmk mice

Show the 10 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:16911
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced 1.2 kb of sequence including exon IV, which contains most of the coding region. (J:16911)

Disease models

Expression

In Mice Carrying this Mutation:	25 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	29 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 Pthlh Mutation: 19 strains or lines available

References

• Original: J:16911 Karaplis AC, et al., Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev. 1994 Feb 1;8(3):277-89
• All: 48 reference(s)