Phenotypes associated with this allele

• Allele Symbol: Ss18l1^em1Zqi
• Allele Name: endonuclease-mediated mutation 1, Zilong Qiu
• Allele ID: MGI:6401515
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ss18l1^em1Zqi/Ss18l1^em1Zqi	involves: C57BL/6	MGI:6401518
ht2	Ss18l1^em1Zqi/Ss18l1^+	involves: C57BL/6	MGI:6401519

Genotype
MGI:6401518

hm1

• Allelic Composition: Ss18l1^em1Zqi/Ss18l1^em1Zqi
• Genetic Background: involves: C57BL/6

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

mortality/aging

premature death ( J:278840 )

• most homozygotes are lethal, with most mice surviving less than one month

growth/size/body

decreased body size ( J:278840 )

• survivors are much smaller in size

behavior/neurological

abnormal locomotor behavior ( J:278840 )

• survivors exhibit a severe locomotion impairment

hematopoietic system

increased microglial cell activation ( J:278840 )

• activated microglia are seen lumbar spinal cord and motor cortex; microglial activation is higher in the spinal cord than motor cortex at P14

immune system

increased microglial cell activation ( J:278840 )

• activated microglia are seen lumbar spinal cord and motor cortex; microglial activation is higher in the spinal cord than motor cortex at P14

nervous system

increased microglial cell activation ( J:278840 )

• activated microglia are seen lumbar spinal cord and motor cortex; microglial activation is higher in the spinal cord than motor cortex at P14

abnormal innervation pattern to muscle ( J:278840 )

• the ratio of innervation of neuromuscular junctions in tibialis anterior muscles is decreased

• however, mice show normal numbers of cholinergic motor neurons in the ventral horn of lumbar spinal cord

Genotype
MGI:6401519

ht2

• Allelic Composition: Ss18l1^em1Zqi/Ss18l1⁺
• Genetic Background: involves: C57BL/6

behavior/neurological

impaired coordination ( J:278840 )

• mice exhibit deficits in motor coordination in the accelerating rotarod from 14 months of age, with mice falling more easily from the rod

• in the beam walking test, mice show more slipped steps compared to wild-type mice

• however, mice exhibit no defects in the open field test

hematopoietic system

increased microglial cell activation ( J:278840 )

• mice exhibit activated microglia in the lumbar spinal cord and motor cortex at 6 months of age

immune system

increased microglial cell activation ( J:278840 )

• mice exhibit activated microglia in the lumbar spinal cord and motor cortex at 6 months of age

nervous system

increased microglial cell activation ( J:278840 )

• mice exhibit activated microglia in the lumbar spinal cord and motor cortex at 6 months of age