Phenotypes associated with this allele

• Allele Symbol: Sgcd^tm1Ojml
• Allele Name: targeted mutation 1, Oliver J Muller
• Allele ID: MGI:5792156
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sgcd^tm1Ojml/Sgcd^tm1Ojml	B6.129-Sgcd^tm1Ojml	MGI:5911873
ht2	Sgcd^tm1Ojml/Sgcd^+	B6.129-Sgcd^tm1Ojml	MGI:5911874

Genotype
MGI:5911873

hm1

• Allelic Composition: Sgcd^tm1Ojml/Sgcd^tm1Ojml
• Genetic Background: B6.129-Sgcd^tm1Ojml

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

mortality/aging

prenatal lethality, complete penetrance ( J:234761 )

• no homozygous offspring are produced suggesting lethality during embryogenesis

Genotype
MGI:5911874

ht2

• Allelic Composition: Sgcd^tm1Ojml/Sgcd⁺
• Genetic Background: B6.129-Sgcd^tm1Ojml

cardiovascular system

increased heart weight ( J:234761 )

♂ • 10 month old mice exercised for 22 weeks using a voluntary wheel running system show increased heart to body weight ratio

dilated cardiomyopathy ( J:234761 )

♂ • 1 year old mice develop a mild dilated cardiomyopathy phenotype after voluntary wheel running

♂ • however, under baseline conditions, 1 year old hearts do not show histological signs of dilated cardiomyopathy such as cell degeneration, necrosis and fibrosis and echocardiography shows no differences in fractional shortening and preserved left ventricular function

behavior/neurological

decreased aerobic running capacity ( J:234761 )

♂ • 10 month old mice exercised for 22 weeks using a voluntary wheel running system show reduced cumulative running distance over a period of 4 weeks from the age of 52 weeks

homeostasis/metabolism

decreased aerobic running capacity ( J:234761 )

♂ • 10 month old mice exercised for 22 weeks using a voluntary wheel running system show reduced cumulative running distance over a period of 4 weeks from the age of 52 weeks

abnormal response to exercise ( J:234761 )

♂ • 10 month old mice exercised for 22 weeks using a voluntary wheel running system show reduced cumulative running distance and increased heart to body weight ratio indicating mild cardiomyopathy

muscle

dilated cardiomyopathy ( J:234761 )

♂ • 1 year old mice develop a mild dilated cardiomyopathy phenotype after voluntary wheel running

♂ • however, under baseline conditions, 1 year old hearts do not show histological signs of dilated cardiomyopathy such as cell degeneration, necrosis and fibrosis and echocardiography shows no differences in fractional shortening and preserved left ventricular function

growth/size/body

increased heart weight ( J:234761 )

♂ • 10 month old mice exercised for 22 weeks using a voluntary wheel running system show increased heart to body weight ratio

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1L		DOID:0110436	OMIM:606685	J:234761