Phenotypes Associated with This Genotype

Genotype
MGI:3836904

• Allelic Composition: Ppp1r13l^wa3-J/Ppp1r13l^wa3-J
• Genetic Background: BALB/cJ-Ppp1r13l^wa3-J/J

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

Sparse hair phenotype of the Ppp1r13l^wa3-J/Ppp1r13l^wa3-J mouse

cardiovascular system

cardiomyopathy ( J:146206 )

• early onset leading to congestive heart failure

dilated cardiomyopathy ( J:264272 )

congestive heart failure ( J:146206 )

heart inflammation ( J:264272 )

• hearts develop inflammatory transcriptional patterns and LPS treatment induces higher expression levels of cytokine genes indicating cardiac hypersensitivity to an inflammatory trigger

• digital cell quantification predicts that 7 week old hearts contain more infiltrating CD8+ T cells and macrophages than controls and 12 week old hearts contain a higher presence of gamma-delta T cells and dendritic cells

immune system

heart inflammation ( J:264272 )

• hearts develop inflammatory transcriptional patterns and LPS treatment induces higher expression levels of cytokine genes indicating cardiac hypersensitivity to an inflammatory trigger

• digital cell quantification predicts that 7 week old hearts contain more infiltrating CD8+ T cells and macrophages than controls and 12 week old hearts contain a higher presence of gamma-delta T cells and dendritic cells

muscle

cardiomyopathy ( J:146206 )

• early onset leading to congestive heart failure

dilated cardiomyopathy ( J:264272 )

vision/eye

eyelids open at birth ( J:146206 , J:264272 )

• resulting in eye injuries and loss of sight (J:146206)

blindness ( J:264272 )

• blind adults

reproductive system

female infertility ( J:146206 )

♀ • homozygous females fail to breed

reduced male fertility ( J:146206 )

♂ • homozygous males may breed once or twice at most in their lifetime, and may fail to breed at all

integument

sparse hair ( J:146206 , J:264272 )

• homozygotes have a sparse, but not wavy, coat (J:146206)

waved hair ( J:264272 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive disease		DOID:0050737		J:264272