Phenotypes associated with this allele

• Allele Symbol: Nek1^em1Hdt
• Allele Name: endonuclease-mediated mutation 1, Hugues de The
• Allele ID: MGI:8398103
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nek1^em1Hdt/Nek1^em1Hdt	FVB/N-Nek1^em1Hdt	MGI:8401700
cx2	Nek1^em1Hdt/Nek1^+ Pml^em10Hdt/Pml^em10Hdt	FVB/N-Nek1^em1Hdt Pml^em10Hdt	MGI:8401702
cx3	Nek1^em1Hdt/Nek1^em1Hdt Pml^em10Hdt/Pml^em10Hdt	FVB/N-Nek1^em1Hdt Pml^em10Hdt	MGI:8401703

Genotype
MGI:8401700

hm1

• 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

muscle

muscle weakness ( J:390648 )

• progressive decrease in muscle strength

renal/urinary system

polycystic kidney ( J:390648 )

Genotype
MGI:8401702

cx2

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

mortality/aging

premature death ( J:390648 )

• shortened lifespan, partial penetrance

growth/size/body

weight loss ( J:390648 )

• mice show significant weight loss beginning at 60-70 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 31.5 weeks

behavior/neurological

impaired coordination ( J:390648 )

• impaired coordination and motor function starting at 31.5 weeks after birth on the hanging wire

decreased grip strength ( J:390648 )

• grip strength and limb clasping show an age-dependent, progressive decline in muscle strength and motor function

muscle

muscle weakness ( J:390648 )

• severe muscle weakness

Genotype
MGI:8401703

cx3

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

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

muscle

muscle weakness ( J:390648 )

• mice exhibit exacerbated muscle weakness