Phenotypes associated with this allele

• Allele Symbol: Ppp1r13l^wa3
• Allele Name: waved 3
• Allele ID: MGI:3575541
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ppp1r13l^wa3/Ppp1r13l^wa3	either: C57BL/6-Ppp1r13l^wa3 or (involves: C57BL/6 * DBA/2J)	MGI:3575691

Genotype
MGI:3575691

hm1

• Allelic Composition: Ppp1r13l^wa3/Ppp1r13l^wa3
• Genetic Background: either: C57BL/6-Ppp1r13l^wa3 or (involves: C57BL/6 * DBA/2J)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

pregnancy-related premature death ( J:96392 )

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

postnatal lethality, incomplete penetrance ( 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

cardiovascular system

myocardium 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/size/body

decreased body weight ( J:96392 )

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

muscle

myocardium 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

vision/eye

eyelids open at birth ( J:96392 )

homeostasis/metabolism

abnormal arterial thrombosis ( J:96392 )

• coronary artery thomboses are occasionally seen proximal to cardiomyocyte degeneration

integument

waved hair ( J:96392 )

thin hair shaft ( J:96392 )

• the hair shaft is thinner but has normal length

• hair cuticles are normal