Pthlh^tm2Ack
Targeted Allele Detail

Summary

• Symbol: Pthlh^tm2Ack
• Name: parathyroid hormone-like peptide; targeted mutation 2, Andrew C Karaplis
• MGI ID: MGI:3826465
• Synonyms: PTHrP(1-84), Pthrp^KI
• Gene: Pthlh Location: Chr6:147153607-147165511 bp, - strand Genetic Position: Chr6, 78.19 cM, cytoband F-G
• Alliance: Pthlh^tm2Ack page

Pthlh^tm2Ack/Pthlh^tm2Ack mice show growth retardation, premature aging, osteopenia, kyphosis, muscle atrophy, decrease in adipose tissue, swelling of the brain, and thin skin

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:142669
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted
• Mutation: Nucleotide substitutions
• Mutation details: The nucleotides encoding amino acid 85 was replaced with a stop codon. A floxed neo cassette inserted into intron 3 was removed by cre mediated recombination using transient cre expression. This allele expresses a truncated protein that lacks the nuclear localization signal and C-terminal region. (J:142669)

Expression

In Structures Affected by this Mutation:

14 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:142669 Miao D, et al., Severe growth retardation and early lethality in mice lacking the nuclear localization sequence and C-terminus of PTH-related protein. Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20309-14
• All: 6 reference(s)