Phenotypes Associated with This Genotype

Genotype
MGI:7736631

• Allelic Composition: Pax7^tm1(cre)Mrc/Pax7⁺; Styxl2^tm1Nju/Styxl2^tm1Nju
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:351096 )

• although born at the expected Mendelian ratio, all homozygous pups die within a few hours after birth; no live pups older than 1 day are recovered

homeostasis/metabolism

cyanosis ( J:351096 )

• at P1, the skin of newborn pups appears cyanotic

respiratory system

primary atelectasis ( J:351096 )

• pulmonary alveoli fail to open in newborn pups

muscle

abnormal sarcomere morphology ( J:351096 )

• however, some residual sarcomeres are still present in skeletal muscles

• at P1, TEM analysis showed severe disruption of the sarcomeric structures in both the diaphragm and hindlimb muscles

abnormal skeletal muscle morphology ( J:351096 )

• at P1, pups show defective sarcomeres in striated muscles; skeletal muscles of P1 pups show an obvious increase in protein levels of non-muscle myosin IIs (MYH9 and MYH10)