Phenotypes Associated with This Genotype

Genotype
MGI:3530886

• Allelic Composition: Srf^tm2.1Nor/Srf^tm2.1Nor; Tg(Myog-cre)1Eno/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Curved spine and cyanosis in Srf^tm2.1Nor/Srf^tm2.1Nor Tg(Myog-cre)1Eno/0 mice

mortality/aging

neonatal lethality, complete penetrance ( J:96122 )

• mutants die after birth from an inability to breathe

behavior/neurological

no spontaneous movement ( J:96122 )

• mutants are immobile at birth

growth/size/body

decreased birth weight ( J:96122 )

• mutants weigh less at birth as a result of decreased muscle mass

homeostasis/metabolism

cyanosis ( J:96122 )

muscle

abnormal skeletal muscle fiber morphology ( J:96122 )

• muscle fibers are thinner than normal with large interstitial spaces however the normal number of nuclei are seen indicating a decrease in growth but not proliferation of the cells

• the sarcomere units are smaller and the fibers are narrow and disorganized

abnormal diaphragm morphology ( J:96122 )

• abnormalities in the diaphragm muscle prevent breathing

decreased skeletal muscle mass ( J:96122 )

respiratory system

respiratory failure ( J:96122 )

• neonates are unable to breathe

skeleton

kyphosis ( J:96122 )

cardiovascular system

cardiovascular system phenotype ( J:96122 )

N • no cardiac abnormalities are seen and the heart is beating at birth