Hesx1^tm3Jpmb
Targeted Allele Detail

Summary

• Symbol: Hesx1^tm3Jpmb
• Name: homeobox gene expressed in ES cells; targeted mutation 3, Juan Pedro Martinez Barbera
• MGI ID: MGI:3822475
• Synonyms: Hesx1^R160C
• Gene: Hesx1 Location: Chr14:26716373-26724286 bp, + strand Genetic Position: Chr14, 16.09 cM, cytoband A3-B
• Alliance: Hesx1^tm3Jpmb 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 details: The 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)

Disease models

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)