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Pthlhtm1Hmk
Targeted Allele Detail
Nomenclature
Symbol: Pthlhtm1Hmk
Name: parathyroid hormone-like peptide; targeted mutation 1, Henry M Kronenberg
MGI ID: MGI:2154515
Synonyms: PTHrP-
Gene: Pthlh  Location: Chr6:147252101-147264167 bp, - strand  Genetic Position: Chr6, 78.19 cM, cytoband F-G
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 details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 17 assay results
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:  3 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Albright's hereditary osteodystrophy (J:16911)

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:  37 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory