Phenotypes Associated with This Genotype

Genotype
MGI:8401700

• Allelic Composition: Nek1^em1Hdt/Nek1^em1Hdt
• Genetic Background: FVB/N-Nek1^em1Hdt

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

mortality/aging

premature death ( J:390648 )

• median survival of 35 weeks

• mice receiving intraperitoneal injections of poly(I:C), twice a week, beginning at week 5 after birth, for the duration of their lifetime to induce the activation of interferon signaling succumb to amyotrophic lateral sclerosis much later, with a median survival of 54 weeks, compared to 35 weeks in untreated mice

growth/size/body

polycystic kidney ( J:390648 )

decreased body size ( J:390648 )

• 16.4% weight loss, beginning at 25-29 weeks of age

nervous system

abnormal nervous system morphology ( J:390648 )

• mice show rapid development of amyotrophic lateral sclerosis, with mean onset of neurological symptoms at 31.8 weeks

• poly(I:C)-treated mice exhibit mild or no symptoms for several months

abnormal motor neuron morphology ( J:390648 )

• mice exhibit large numbers of mutant protein puncta within spinal cord alpha motoneurons

• mutant protein puncta are seen in both nuclear and cytoplasmic compartments

• poly(I:C)-treated mice show a reduction of mutant protein puncta in alpha motoneurons

behavior/neurological

impaired coordination ( J:390648 )

decreased grip strength ( J:390648 )

• grip strength shows an age-dependent, progressive decline in muscle strength and motor function

• poly(I:C) treatment improves muscle strength, with mice showing improved grip strength

muscle

muscle weakness ( J:390648 )

• progressive decrease in muscle strength

renal/urinary system

polycystic kidney ( J:390648 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 24		DOID:0081378	OMIM:617892	J:390648