Phenotypes associated with this allele

• Allele Symbol: Syne1^tm1.1Chen
• Allele Name: targeted mutation 1.1, Ju Chen
• Allele ID: MGI:4414824
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Syne1^tm1.1Chen/Syne1^tm1.1Chen	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss	MGI:4414832

Genotype
MGI:4414832

hm1

• Allelic Composition: Syne1^tm1.1Chen/Syne1^tm1.1Chen
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:155342 )

• 60% of mice die between P2 and P11

muscle

abnormal skeletal muscle fiber morphology ( J:155342 )

• skeletal muscle fibers exhibit defective nuclear positioning, anchorage, and mechanics compared with wild-type mice

• however, nuclear shape and perinuclear space are normal

centrally nucleated skeletal muscle fibers ( J:155342 )

• in 5% to 12% of myofibers compared to less than 1% of wild-type myofibers

abnormal muscle physiology ( J:155342 )

• mice exhibit more variation in stress generated compared with wild-type mice

growth/size/body

decreased body weight ( J:155342 )

• postnatally, surviving mice weigh 20% to 25% less than wild-type mice

• at P21, mice weight 33% lower than wild-type mice

postnatal growth retardation ( J:155342 )

behavior/neurological

absent gastric milk in neonates ( J:155342 )

• at P1, mice have little detectable milk in their stomach unlike in wild-type mice

weakness ( J:155342 )

• at P1

impaired exercise endurance ( J:155342 )

• at P7, P14, and P21, mice exhibit decreased exercise capacity compared with wild-type mice

homeostasis/metabolism

impaired exercise endurance ( J:155342 )

• at P7, P14, and P21, mice exhibit decreased exercise capacity compared with wild-type mice

cardiovascular system

cardiovascular system phenotype ( J:155342 )

N • despite exercise capacity, mice exhibit normal heart function