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Guca1atm1.1Hunt
Targeted Allele Detail
Summary
Symbol: Guca1atm1.1Hunt
Name: guanylate cyclase activator 1a (retina); targeted mutation 1.1, David M Hunt
MGI ID: MGI:4999776
Synonyms: Guca1aCOD3
Gene: Guca1a  Location: Chr17:47705483-47711509 bp, - strand  Genetic Position: Chr17, 23.07 cM, cytoband D
Alliance: Guca1atm1.1Hunt page
Progressive loss of cone photoreceptors in Guca1atm1.1Hunt/Guca1a+ and Guca1atm1.1Hunt/Guca1atm1.1Hunt mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:171667
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Insertion
 
Mutation detailsExon 4 was replaced with a floxed neo cassette and a modified exon 4, which contained an A to G transition that results in the amino acid substitution of glycine for glutamic acid at position 155 (E155G), mimicking a mutation found in some cone dystrophy 3 (COD3) patients. Cre-mediated recombination removed the neo cassette. (J:171667)
Generation of the Guca1atm1.1Hunt allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Guca1a Mutation:  12 strains or lines available
References
Original:  J:171667 Buch PK, et al., Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. PLoS One. 2011;6(3):e18089
All:  2 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)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory