Ppp1r13l<wa3> Spontaneous Allele Detail MGI Mouse (MGI:3575541)

Ppp1r13l^wa3
Spontaneous Allele Detail

Nomenclature

Symbol:	Ppp1r13l^wa3
Name:	protein phosphatase 1, regulatory (inhibitor) subunit 13 like; waved 3
MGI ID:	MGI:3575541
Gene:	Ppp1r13l Location: Chr7:19945098-19963882 bp, + strand Genetic Position: Chr7, 3.7 cM

Mutation
origin

Strain of Origin:

C57BL/6

Mutation
description

Allele Type:	Spontaneous
Mutation:	Deletion
	Sequence analysis revealed a 14 bp deletion in the genomic DNA. This deletion removes a splice donor site, resulting in a transcript for this allele that is 92 bp longer than that of the wild-type allele due to the retention of intronic sequence between exons 8 and 9. The retained sequence includes the splice donor site of exon 8. The inserted sequence introduces a premature stop codon that results in the loss of a substantial portion of the N-terminal portion of the open reading frame of the encoded protein. Loss of protein product was confirmed by Western blot analysis. (J:96392)
Inheritance:	Not Specified

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 Ppp1r13l Mutation:	4 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1
cardiovascular system		√
myocardial necrosis		√
dilated heart right ventricle		√
dilated cardiomyopathy		√
decreased cardiac muscle contractility		√
		hm1
growth/size		√
decreased body weight		√
		hm1
homeostasis/metabolism		√
thrombosis		√
		hm1
lethality/postnatal		√
postnatal lethality		√
		hm1
life span/aging		√
pregnancy-related premature death		√
		hm1
muscle		√
myocardial necrosis		√
dilated cardiomyopathy		√
decreased cardiac muscle contractility		√
		hm1
skin/coat/nails		√
waved hair		√
thin hair shaft		√
		hm1
vision/eye		√
eyelids open at birth		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

hm1

Ppp1r13l^wa3/Ppp1r13l^wa3

either: C57BL/6-Ppp1r13l^wa3 or (involves: C57BL/6 * DBA/2J)

lethality/postnatalpostnatal lethality (J:96392)

Background Sensitivity: postnatal viability is reduced on the C57BL/6 background compared to the mixed C57BL/6 DBA/2J background

fewer than 10% of homozygotes survive beyond 4 weeks of age

life span/agingpregnancy-related premature death (J:96392)

surviving female homozygotes often die suddenly during the post-partum period

cardiovascular systemmyocardial necrosis (J:96392)

at birth on the ventricles of the heart, lesions are seen that consist of focal areas of myofiber degeneration, necrosis, and mineralization

these lesions first appear on the anterior aspect of the right ventricle near the outflow tract and become larger with age

extensive necrosis of the anterior free wall and septum are seen by P14

dilated heart right ventricle (J:96392)

seen at P14

dilated cardiomyopathy (J:96392)

seen in 8 week old homozygotes characterized by left ventricular chamber dilation, left atrial enlargement and reduction in contractile function without left ventricular hypertrophy

decreased cardiac muscle contractility (J:96392)

at 8 weeks of age, fractional shortening is reduced to 24 +/- 14% in homozygotes compared to 53 +/- 6% in wild-type mice

growth/sizedecreased body weight (J:96392)

by 2 weeks of age homozygotes are about 60% the weight of normal littermates despite having similar birth weights

musclemyocardial necrosis (J:96392)

at birth on the ventricles of the heart, lesions are seen that consist of focal areas of myofiber degeneration, necrosis, and mineralization

these lesions first appear on the anterior aspect of the right ventricle near the outflow tract and become larger with age

extensive necrosis of the anterior free wall and septum are seen by P14

dilated cardiomyopathy (J:96392)

seen in 8 week old homozygotes characterized by left ventricular chamber dilation, left atrial enlargement and reduction in contractile function without left ventricular hypertrophy

decreased cardiac muscle contractility (J:96392)

at 8 weeks of age, fractional shortening is reduced to 24 +/- 14% in homozygotes compared to 53 +/- 6% in wild-type mice

skin/coat/nailswaved hair (J:96392)

thin hair shaft (J:96392)

the hair shaft is thinner but has normal length

hair cuticles are normal

vision/eyeeyelids open at birth (J:96392)

homeostasis/metabolismthrombosis (J:96392)

coronary artery thombosi are occasionally seen proximal to cardiomyocyte degeneration

References

Original:	J:96392 Herron BJ et al., "A mutation in NFkB interacting protein 1 results in cardiomyopathy and abnormal skin development in wa3 mice." Hum Mol Genet 2005 Mar 1;14(5):667-77
All:	1 reference(s)

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