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Targeted Allele Detail
Symbol: Hesx1tm3Jpmb
Name: homeobox gene expressed in ES cells; targeted mutation 3, Juan Pedro Martinez Barbera
MGI ID: MGI:3822475
Synonyms: Hesx1R160C
Gene: Hesx1  Location: Chr14:27000362-27002329 bp, + strand  Genetic Position: Chr14, 16.09 cM, cytoband A3-B
Germline Transmission:  Earliest citation of germline transmission: J:142649
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
Mutation detailsThe coding sequence for wild-type Hesx1 was mutated by PCR so that codon 160 (arginine) was changed to encode a cysteine residue (CGA->TGC). A loxP-flanked PGK-Neo selection cassette was inserted into the first intron of the mutated Hesx1 sequence in the targeting vector. The orientation of the PGK-Neo was inverted relative to the normal direction of transcription in an attempt to reduce expression of the mutated allele, which may have a dominant negative effect in ES cells where the Hesx1 locus is transcripitionally active. Homologous recombination in CCE ES cells replaced the wild-type sequence with the mutant sequence in the targeting vector. F1 animals were crossed with Actin-beta-cre mice to excise the PGK-Neo cassette. (J:142649)
View phenotypes for all genotypes (concatenated display).
Disease models
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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 Hesx1 Mutation:  6 strains or lines available
Original:  J:142649 Sajedi E, et al., Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism. Dis Model Mech. 2008 Nov;1(4-5):241-54
All:  1 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.04
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