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Trps1tm1.1Shiv
Targeted Allele Detail
Summary
Symbol: Trps1tm1.1Shiv
Name: transcriptional repressor GATA binding 1; targeted mutation 1.1, Ramesh A Shivdasani
MGI ID: MGI:2446570
Synonyms: Trps1-, TRPS1delta gt
Gene: Trps1  Location: Chr15:50518148-50753859 bp, - strand  Genetic Position: Chr15, 19.18 cM
Alliance: Trps1tm1.1Shiv page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:80615
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsThe 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)
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: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 20 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Trps1tm1.1Shiv
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 Trps1 Mutation:  64 strains or lines available
References
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
All:  8 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
11/12/2024
MGI 6.24
The Jackson Laboratory