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Pthlhtm1Hmk
Targeted Allele Detail
Summary
Symbol: Pthlhtm1Hmk
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: Pthlhtm1Hmk page
Alizarin red S stained skeletal images of hemizygous and homozygous Tg(Col2a1-PTHR1*H223R)AHju and Pthlhtm1Hmk/Pthlhtm1Hmk 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 detailsA neomycin resistance cassette replaced 1.2 kb of sequence including exon IV, which contains most of the coding region. (J:16911)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  47 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory