About   Help   FAQ
Hesx1tm3Jpmb
Targeted Allele Detail
Summary
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: Chr14:26716373-26724286 bp, + strand  Genetic Position: Chr14, 16.09 cM, cytoband A3-B
Alliance: Hesx1tm3Jpmb page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:142649
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 10 anatomical structure(s)
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 Hesx1 Mutation:  14 strains or lines available
References
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)

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/17/2024
MGI 6.24
The Jackson Laboratory