Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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

Germline Transmission:	Earliest citation of germline transmission: J:80615
Parent Cell Line:	J1 (ES Cell)
Strain of Origin:	129S4/SvJae

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	20 anatomical structure(s)

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:	62 strains or lines available

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)