Phenotypes associated with this allele

• Allele Symbol: Sema3c^L605P
• Allele Name: Leu605Pro
• Allele ID: MGI:3522218
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sema3c^L605P/Sema3c^L605P	C57BL/6J-Sema3c^L605P	MGI:3522711
ht2	Sema3c^L605P/Sema3c^+	C57BL/6J-Sema3c^L605P	MGI:3522712

Genotype
MGI:3522711

hm1

• Allelic Composition: Sema3c^L605P/Sema3c^L605P
• Genetic Background: C57BL/6J-Sema3c^L605P

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:94456 )

• only a few rare homozygotes survive to adulthood

pigmentation

abnormal extracutaneous pigmentation ( J:94456 )

• ectopic pigmentation in the heart, lung, and other tissues

hypopigmentation ( J:94456 )

• some mutants have hypopigmentation of the skin

cardiovascular system

interrupted aortic arch ( J:94456 )

• interruption of the aortic arch was seen in 13 of 19 homozygotes along with persistent truncus arteriosis, other arch abnormalities were also seen

abnormal carotid artery morphology ( J:94456 )

• duplication of the left carotid artery is seen as a result of aortic arch abnormalities

persistent truncus arteriosus ( J:94456 )

• 13 out of 19 homozygotes had persistent truncus arteriosis and show an undivided arterial outflow

double outlet right ventricle ( J:94456 )

• 6 out of 19 homozygotes had double outlet right ventricle

semilunar valve regurgitation ( J:94456 )

• outflow regurgitation is seen

Genotype
MGI:3522712

ht2

• Allelic Composition: Sema3c^L605P/Sema3c⁺
• Genetic Background: C57BL/6J-Sema3c^L605P

cardiovascular system

interrupted aortic arch ( J:94456 )

• interruption of the aortic arch was seen in 1 of 9 heterozygotes

persistent truncus arteriosus ( J:94456 )

• 1 out of 9 heterozygotes had persistent truncus arteriosis

double outlet right ventricle ( J:94456 )

• 2 out of 9 heterozygotes had double outlet right ventricle

abnormal heart valve morphology ( J:94456 )

• 2 out of 9 heterozygotes had dysmorphic valves