Phenotypes Associated with This Genotype

Genotype
MGI:3834398

• Allelic Composition: Syne1^tm1.1Mcn/Syne1^tm1.1Mcn
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL

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

mortality/aging

decreased survivor rate ( J:144757 )

• only half of mice born survive passed weaning

neonatal lethality, incomplete penetrance ( J:144757 )

• only 13% of the expected 25% survive between P0 and P1

• cyanotic mice die within 15 minutes of birth

cardiovascular system

decreased heart rate ( J:144757 )

prolonged PR interval ( J:144757 )

prolonged QRS complex duration ( J:144757 )

• widened

prolonged QT interval ( J:144757 )

behavior/neurological

poor grooming ( J:144757 )

• at 7 months, mice exhibit poor grooming as evidenced by scruffy coat and ocular conjunctivitis

impaired coordination ( J:144757 )

• female mice are uncoordinated on a rotarod compared to wild-type mice

paraparesis ( J:144757 )

• female mice exhibit hind limb weakness unlike wild-type mice

• at 7 months, older male and female mice exhibit limb weakness and stiffness that limits their range of motion

respiratory system

small lung ( J:144757 )

• in mice that die immediately after birth

atelectasis ( J:144757 )

• lungs fail to inflate in mice that die immediately after birth

skeleton

kyphoscoliosis ( J:144757 )

• at 7 months

muscle

dystrophic muscle ( J:144757 )

• as in patients with Emery Dreifuss muscular dystrophy, mice exhibit muscles that have centrally localized nuclei, smaller sized muscle fibers, and greater variation of fiber size compared to wild-type muscle

growth/size/body

decreased birth body size ( J:144757 )

• mice are small at birth compared to wild-type mice

decreased body weight ( J:144757 )

• in adult female and aged male mice

homeostasis/metabolism

cyanosis ( J:144757 )

• in some mice at birth

immune system

conjunctivitis ( J:144757 )

• at 7 months, mice exhibit poor grooming as evidenced by scruffy coat and ocular conjunctivitis

vision/eye

conjunctivitis ( J:144757 )

• at 7 months, mice exhibit poor grooming as evidenced by scruffy coat and ocular conjunctivitis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Emery-Dreifuss muscular dystrophy		DOID:11726	OMIM:PS310300	J:144757