Atp13a3^em2H
Endonuclease-mediated Allele Detail

Summary

• Symbol: Atp13a3^em2H
• Name: ATPase type 13A3; endonuclease-mediated mutation 2, Harwell
• MGI ID: MGI:6450011
• Synonyms: Atp13a1^P452LfsTer7, ATP13A3-P452Lfs-EM2-B6N
• Gene: Atp13a3 Location: Chr16:30131241-30207674 bp, - strand Genetic Position: Chr16, 21.26 cM
• Alliance: Atp13a3^em2H 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)
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hm1	Atp13a3^em2H/Atp13a3^em2H	C57BL/6NTac-Atp13a3^em2H/H
ht2	Atp13a3^em2H/Atp13a3^+	C57BL/6NTac-Atp13a3^em2H/H

Phenotypes:

Affected Systems	hm1	ht2
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 Unpublished. 2004-2013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)