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Atp13a3em2H
Endonuclease-mediated Allele Detail
Summary
Symbol: Atp13a3em2H
Name: ATPase type 13A3; endonuclease-mediated mutation 2, Harwell
MGI ID: MGI:6450011
Synonyms: Atp13a1P452LfsTer7, ATP13A3-P452Lfs-EM2-B6N
Gene: Atp13a3  Location: Chr16:30131241-30207674 bp, - strand  Genetic Position: Chr16, 21.26 cM
Alliance: Atp13a3em2H page
Mutation
origin
Strain of Origin:  C57BL/6NTac
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Intragenic deletion
    CRISPR-targeting introduced a single base pair deletion. (J:90559)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
 
Atp13a3em2H/Atp13a3+
 
Phenotypes:
Affected Systems
show or hide all annotated terms Sex:
   
cardiovascular system
abnormal pulmonary artery morphology
abnormal myocardial fiber morphology
heart right ventricle hypertrophy
cardiac interstitial fibrosis
abnormal heart echocardiography feature
increased pulmonary artery pressure
pulmonary hypertension
cellular
cardiac interstitial fibrosis
growth/size/body
heart right ventricle hypertrophy
mortality/aging
prenatal lethality, incomplete penetrance
muscle
abnormal myocardial fiber morphology
heart right ventricle hypertrophy
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Atp13a3 Mutation:  68 strains or lines available
References
Original:  J:90559 The Mammalian Genetics Unit at Harwell, Information obtained from the Mammalian Genetics Unit, Medical Research Council (MRC), Harwell, UK. Unpublished. 2004-2013;
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
12/17/2024
MGI 6.24
The Jackson Laboratory