Phenotypes Associated with This Genotype

Genotype
MGI:8401703

• Allelic Composition: Nek1^em1Hdt/Nek1^em1Hdt; Pml^em10Hdt/Pml^em10Hdt
• Genetic Background: FVB/N-Nek1^em1Hdt Pml^em10Hdt

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

mortality/aging

premature death ( J:390648 )

• mice succumb a week earlier at a median survival of 34 weeks, than single Nek1 homozygotes

• 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, does not extend survival

growth/size/body

weight loss ( J:390648 )

• accelerated weight loss; 20% weight loss, beginning at 25-29 weeks of age

nervous system

abnormal nervous system morphology ( J:390648 )

• mice exhibit amyotrophic lateral sclerosis-like phenotypes, with mean onset of neurological symptoms at 29.6 weeks of age

• treatment with poly(I:C) fails to mitigate any amyotrophic lateral sclerosis-like symptoms

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 somewhat, with mice showing some improvement in grip strength

muscle

muscle weakness ( J:390648 )

• mice exhibit exacerbated muscle weakness

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