Phenotypes Associated with This Genotype

Genotype
MGI:5473285

• Allelic Composition: Nmnat2^{Tn(sb-Tyr)2172.P9KK4BOve}/Nmnat2^{Tn(sb-Tyr)2172.P9KK4BOve}
• Genetic Background: involves: FVB/N

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

Distended bladder, urogenital tract damage, underdeveloped diaphragm, and decreased skeletal muscle mass in Nmnat2^{Tn(sb-Tyr)2172.P9KK4BOve}/Nmnat2^{Tn(sb-Tyr)2172.P9KK4BOve} E18.5 pups

mortality/aging

neonatal lethality, complete penetrance ( J:192196 )

• mice never breath

nervous system

abnormal facial motor nucleus morphology ( J:192196 )

• decreased motor neurons

abnormal neuron morphology ( J:192196 )

• 2- to 3-fold increase in pyknotic neurons in the spinal cord at E13.5

decreased motor neuron number ( J:192196 )

• in facial and other nuclei

• in the dorsal root ganglion

• in the spinal cord as early as E13.5

decreased sensory neuron number ( J:192196 )

• in the dorsal root ganglion in the lumbar region at E18.5

small dorsal root ganglion ( J:192196 )

• at E18.5

axon degeneration ( J:192196 )

• axon loss in the leg begins between E13 and E15

peripheral nervous system degeneration ( J:192196 )

• axon loss in the leg begins between E13 and E15

renal/urinary system

abnormal kidney development ( J:192196 )

• underdeveloped

abnormal urethra morphology ( J:192196 )

• damaged due to urine retention

distended urinary bladder ( J:192196 )

• in full-term pups

ureteral reflux ( J:192196 )

• suggested by kidney underdevelopment and damage

respiratory system

atelectasis ( J:192196 )

respiratory failure ( J:192196 )

muscle

abnormal diaphragm development ( J:192196 )

• underdeveloped

decreased skeletal muscle mass ( J:192196 )

behavior/neurological

hunched posture ( J:192196 )

• in full-term pups

paralysis ( J:192196 )

• in full-term pups

growth/size/body

decreased fetal weight ( J:192196 )

• at E18.5

distended abdomen ( J:192196 )

• in full-term pups