Phenotypes Associated with This Genotype

Genotype
MGI:5907140

• Allelic Composition: Rnf170^{Gt(OST104375)Lex}/Rnf170^{Gt(OST104375)Lex}
• Genetic Background: B6.129S-Rnf170^{Gt(OST104375)Lex}

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

behavior/neurological

impaired limb coordination ( J:226836 )

• diagonal limb couplets during fast walking are markedly asynchronous at 12 months of age

• homolateral limb pairs show a more dispersed lag phase in 12 month old mice compared to wild-type controls

• diagonal support pattern in 12-month-old mice is significantly decreased compared to wild-type controls

• however, no significant difference in the latency to fall in an accelerating rod test or in activities on the beam

decreased grip strength ( J:226836 )

• at 24-26 months of age

abnormal gait ( J:226836 )

• waddling gait is more pronounced in dark conditions

• progressive gait abnormality develops by 12 months of age

• increase in the Ab step sequence pattern (LF-RH-RF-LH) in 12 month old mice compared to wild-type mice

• however, no significant differences in walking speed or stride length and cycles compared to wild-type mice

increased thermal nociceptive threshold ( J:226836 )

• at 24-26 months of age

muscle

abnormal muscle physiology ( J:226836 )

• the ratio between the H wave (measure of delayed muscular activity depending on activation of sensory neurons in spinal reflex circuits) and the M wave (measure of muscle activity induced by electrical stimulation of muscle fibers) is significantly reduced compared to controls at 24-26 months of age

growth/size/body

growth/size/body region phenotype ( J:226836 )

N • growth curve is not significantly different from wild-type controls

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:226836 )

N • glucose metabolism is not significantly different from wild-type controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary ataxia		DOID:0050951		J:226836