Phenotypes Associated with This Genotype

Genotype
MGI:4835061

• Allelic Composition: Smn1^tm1Msd/Smn1^tm1Msd; Grm7^{Tg(SMN2)89Ahmb}/Grm7^{Tg(SMN2)89Ahmb}; Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

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

cardiovascular system

abnormal artery morphology ( J:164444 )

• thinner arterial wall

abnormal interventricular septum morphology ( J:164444 )

• the interventricular septum is partially flattened at P5 and P9

• the interventricular septum lacks the normal curvature which results in a D-shaped left ventricle

thin interventricular septum ( J:164444 )

• reduction in width of the interventricular septum at P5 and P9, but not at P2

increased heart left ventricle size ( J:164444 )

• enlargement of the left ventricle at P5 and P9

cardiac interstitial fibrosis ( J:164444 )

• interstitial fibrosis due to oxidative stress is initiated at P2 and progresses rapidly

decreased heart rate ( J:164444 )

prolonged RR interval ( J:164444 )

• electrocardiogram indicates longer R-R intervals

cellular

cardiac interstitial fibrosis ( J:164444 )

• interstitial fibrosis due to oxidative stress is initiated at P2 and progresses rapidly

oxidative stress ( J:164444 )

• marker analysis indicates oxidative stress in the heart

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Werdnig-Hoffmann disease		DOID:13137	OMIM:253300	J:164444