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| Nomenclature |
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Symbol:
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Hesx1tm3Jpmb
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Name:
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homeobox gene expressed in ES cells;
targeted mutation 3, Juan Pedro Martinez Barbera
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MGI ID: |
MGI:3822475 |
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Synonyms: |
Hesx1R160C |
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Gene:
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Hesx1
Location:
Chr14:27000362-27002329 bp, + strand
Genetic Position: Chr14,
16.09 cM, cytoband A3-B
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:142649
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Nucleotide substitutions |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Hesx1 Mutation:
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0 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
