Phenotypes Associated with This Genotype

Genotype
MGI:4843114

• Allelic Composition: Adarb1^tm1.1Skwa/Adarb1^tm1.1Skwa; Tg(SLC18A3-cre)KMisa/0
• Genetic Background: involves: C57BL/6

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

mortality/aging

premature death ( J:164294 )

• mice survive 82 weeks compared with 105 weeks for wild-type mice

nervous system

abnormal innervation ( J:164294 )

• ramified axons innervate more than one neuromuscular junction unlike in wild-type mice

motor neuron degeneration ( J:164294 )

• at 2 months

abnormal neuromuscular synapse morphology ( J:164294 )

• ramified axons innervate more than one neuromuscular junction unlike in wild-type mice

abnormal cranial nerve morphology ( J:164294 )

• mice exhibit fewer large neurons in the facial and hypoglossal nerves compared to in wild-type mice

• however, the number of neurons in the oculomotor nerve is normal

abnormal facial nerve morphology ( J:164294 )

• mice exhibit fewer large neurons compared to in wild-type mice

abnormal hypoglossal nerve morphology ( J:164294 )

• mice exhibit fewer large neurons compared to in wild-type mice

abnormal ventral spinal root morphology ( J:164294 )

• the number of myelinated axons in the ventral roots is decreased compared to in wild-type mice

decreased spinal cord ventral horn cell number ( J:164294 )

• between 1 and 2 months of age and slowly decreasing beyond 1 year of age

behavior/neurological

behavior/neurological phenotype ( J:164294 )

N • mice exhibit normal withdrawal response to noxious stimuli

impaired coordination ( J:164294 )

• rotarod performance decreases from 5 weeks through 5 to 6 months of age and further after 18 months in comparison with wild-type mice

decreased grip strength ( J:164294 )

abnormal posture ( J:164294 )

• of the hind limb and tail

abnormal limb posture ( J:164294 )

• of the hind limb

decreased locomotor activity ( J:164294 )

• mice are hypokinetic unlike wild-type mice

muscle

abnormal skeletal muscle fiber morphology ( J:164294 )

• skeletal muscles exhibit pyknotic nuclear clumps unlike in wild-type mice

skeletal muscle fiber atrophy ( J:164294 )

centrally nucleated skeletal muscle fibers ( J:164294 )

growth/size/body

decreased body weight ( J:164294 )

• slightly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis		DOID:332	OMIM:PS105400	J:164294