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| Nomenclature |
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Symbol:
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Pthlhtm1Hmk
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Name:
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parathyroid hormone-like peptide;
targeted mutation 1, Henry M Kronenberg
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MGI ID: |
MGI:2154515 |
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Synonyms: |
PTHrP- |
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Gene:
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Pthlh
Location:
Chr6:147252101-147264167 bp, - strand
Genetic Position: Chr6,
78.19 cM, cytoband F-G
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Alizarin red S stained skeletal images of hemizygous and homozygous Tg(Col2a1-PTHR1*H223R)AHju and Pthlhtm1Hmk/Pthlhtm1Hmk mice
Show the 10 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:16911
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Parent Cell Line:
| D3 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A neomycin resistance cassette replaced 1.2 kb of sequence including exon IV, which contains most of the coding region. (J:16911)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Pthlh Mutation:
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1 strain or line available |
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Notes |
Phenotypic Similarity to Human Syndrome: Albright's hereditary osteodystrophy (J:16911)
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| References |
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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
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All: |
36 reference(s)
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Analysis Tools
