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Atp4atm1.1Ocalv
Targeted Allele Detail
Summary
Symbol: Atp4atm1.1Ocalv
Name: ATPase, H+/K+ exchanging, gastric, alpha polypeptide; targeted mutation 1.1, Oriol Calvete
MGI ID: MGI:6118153
Synonyms: ATP4aR703C, Atp4atm1.1Sgo
Gene: Atp4a  Location: Chr7:30411634-30424959 bp, + strand  Genetic Position: Chr7, 19.2 cM
Alliance: Atp4atm1.1Ocalv page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:235360
Parent Cell Line:  G4 (ES Cell)
Strain of Origin:  (129S6/SvEvTac x C57BL/6NCrl)F1
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 14 was replaced with a modified exon 14 in with CGA was mutated to TGC at position 709 resulting in substitution of cysteine to arginine and a silent mutation in which CTG was mutated to CTT in codon 709 (to generate a HindIII site). A FRT-flanked PGK/bg2-neo resistance cassette was introduced into the intron preceding 5' to exon 13, with a transcriptional orientation opposite to that of the gene. Flp-mediated recombination removed the selection cassette. This mutation corresponds to the human p.R703C mutation responsible for atypical type I familial gastric neuroendocrine tumors. (J:235360)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 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 Atp4a Mutation:  63 strains or lines available
References
Original:  J:235360 Calvete O, et al., A knockin mouse model for human ATP4aR703C mutation identified in familial gastric neuroendocrine tumors recapitulates the premalignant condition of the human disease and suggests new therapeutic strategies. Dis Model Mech. 2016 Sep 1;9(9):975-84
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