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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Atp13a3em2H
endonuclease-mediated mutation 2, Harwell
MGI:6450011
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Atp13a3em2H/Atp13a3em2H C57BL/6NTac-Atp13a3em2H/H MGI:7786759
ht2
 		Atp13a3em2H/Atp13a3+ C57BL/6NTac-Atp13a3em2H/H MGI:7786760


Genotype
MGI:7786759
hm1
Allelic
Composition		 Atp13a3em2H/Atp13a3em2H
Genetic
Background		 C57BL/6NTac-Atp13a3em2H/H
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp13a3em2H mutation (2 available); any Atp13a3 mutation (68 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
prenatal lethality, incomplete penetrance ( J:358006 )
• mice are born at a lower frequency than expected
• however, mice do not exhibit any overt behavioral abnormalities, do not differ in appearance or weight and no differences in right ventricular systolic pressure at 3 months of age




Genotype
MGI:7786760
ht2
Allelic
Composition		 Atp13a3em2H/Atp13a3+
Genetic
Background		 C57BL/6NTac-Atp13a3em2H/H
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp13a3em2H mutation (2 available); any Atp13a3 mutation (68 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal pulmonary artery morphology ( J:358006 )
• lung vascular morphometric analysis shows higher percentage of fully muscularized small pulmonary arteries
abnormal myocardial fiber morphology ( J:358006 )
• increase in cardiomyocyte cross-sectional diameter
abnormal heart echocardiography feature ( J:358006 )
• mice exhibit increased right heart dimensions, namely right ventricular inner diameter and right ventricular end-diastolic anterior wall thickness
• however, heart rate and systemic blood pressure do not differ in 6 months old males
increased pulmonary artery pressure ( J:358006 )
• transthoracic echocardiography shows a shortening of pulmonary acceleration time (a surrogate of pulmonary artery pressure and pulmonary vascular resistance)
pulmonary hypertension ( J:358006 )
• males spontaneously and consistently develop pulmonary hypertension at 6 months, but not 3 months, of age, with a significantly elevation of right ventricular systolic pressure
• females exhibit normal pressures at 6 months

cellular

growth/size/body
heart right ventricle hypertrophy ( J:358006 )

muscle
abnormal myocardial fiber morphology ( J:358006 )
• increase in cardiomyocyte cross-sectional diameter




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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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory