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| Nomenclature |
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Symbol:
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Trps1tm1.1Shiv
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Name:
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trichorhinophalangeal syndrome I (human);
targeted mutation 1.1, Ramesh A Shivdasani
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MGI ID: |
MGI:2446570 |
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Synonyms: |
TRPS1delta gt |
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Gene:
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Trps1
Location:
Chr15:50654761-50890041 bp, - strand
Genetic Position: Chr15,
19.18 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:80615
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intragenic deletion |
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Mutation details: The floxed neo cassette that replaced exon 4 was excised in vivo via cre mediated recombination. The deleted region encoded the GATA-type zinc finger domain. RT-PCR of homozygous mutant mice identified transcript lacking the targeted nucleotides, encoding amino acids 888 through 928, however it retained in frame sequence encoding the nuclear localization singal (amino acids 946 through 952).
(J:80615)
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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 Trps1 Mutation:
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9 strains or lines available |
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| References |
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Original: |
J:80615
Malik TH et al.,
"Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes."
Mol Cell Biol 2002 Dec;22(24):8592-600
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All: |
5 reference(s)
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Analysis Tools
