Phenotypes associated with this allele

• Allele Symbol: Parp6^em1Msco
• Allele Name: endonuclease-mediated mutation 1, Michael S. Cohen
• Allele ID: MGI:6865766
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Parp6^em1Msco/Parp6^em1Msco	C57BL/6N-Parp6^em1Msco	MGI:6865770

Genotype
MGI:6865770

hm1

• Allelic Composition: Parp6^em1Msco/Parp6^em1Msco
• Genetic Background: C57BL/6N-Parp6^em1Msco

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:319836 )

• embryos survive to at least E18 but 92% of newborn pups do not survive more than 24 hours. with most dying less than 30 min after birth; only 2 pups survive to at least 21 days

homeostasis/metabolism

cyanosis ( J:319836 )

• in less than 30 min after birth, pups slowly become cyanotic and die

• however, pups are able to feed milk from mothers at birth

respiratory system

abnormal lung morphology ( J:319836 )

• cross-sections of P0 lungs show fewer and smaller clear spaces (air), indicating less air in lungs

growth/size/body

decreased body size ( J:319836 )

• the 2 pups that survive to P21 are smaller

• one male pup that survived to 100 days eventually caught up in size and weight

decreased body weight ( J:319836 )

• gross morphology and weight at E18 are normal, however the 2 pups that survive to P21 weigh 31% of that of wild-type mice

behavior/neurological

jumpy ( J:319836 )

• pups surviving to P21 show motor activity differences, with erratic and jumpy behavior

• one male pup that survived to 100 days showed loss of twitching behavior over time

reproductive system

male infertility ( J:319836 )

♂ • one male pup that survived to 100 days is sterile

nervous system

nervous system phenotype ( J:319836 )

N • no difference in overall development or axonal outgrowth is seen at E12.5

N • nerve innervation of the rib cage muscles and the diaphragm are normal at E18