Phenotypes associated with this allele

• Allele Symbol: Tmem106b^em1Damme
• Allele Name: endonuclease-mediated mutation 1, Markus Damme
• Allele ID: MGI:6512073
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tmem106b^em1Damme/Tmem106b^em1Damme	C57BL/6-Tmem106b^em1Damme	MGI:6512375

Genotype
MGI:6512375

hm1

• Allelic Composition: Tmem106b^em1Damme/Tmem106b^em1Damme
• Genetic Background: C57BL/6-Tmem106b^em1Damme

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

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:288278 )

• reduced motor coordination in balance beam and vertical pole tests at age 6 months, progressively worse (balance beam) at 14 months

• normal rotarod test performance and grip strength

impaired coordination ( J:288278 )

• slightly reduced motor coordination in balance beam and vertical pole tests

• normal rotarod test performance

cellular

abnormal lysosome morphology ( J:288278 )

• accumulation of lysosomal membrane structures in axon initial segment (AIS) of whisker motor neurons owing to impaired retrograde transport (failure of lysosomes to enter soma)

impaired autophagy ( J:288278 )

• reduced autophagosome turnover in cultured motor neuron axons

craniofacial

abnormal orbicularis oculi muscle morphology ( J:288278 )

• reduced eye blink reflex response at ages 6 and 14 months

nervous system

nervous system phenotype ( J:288278 )

N • normal number of motor neurons in facial motor nucleus (FMN) at age 22 weeks

N • no signs of microgliosis or astrogliosis in FMN at age 4 months

N • no vacuolization of peripheral facial nerve and normal myelination at age 5 months

N • normal number of mitochondria and synaptic vessels in of peripheral facial nerve and compact facial nerve neuromuscular junctions (NMJs)

N • normal orbicularis oculi muscle NMJs at age 8-10 weeks

abnormal motor neuron morphology ( J:288278 )

• vacuolization in spinal cord motor neurons in histological sections

• vacuoles in 28% of in vitro cultured spinal cord motor neurons after 5 days, mostly in soma

• shorter axons in cultured spinal cord motor neurons

• normal number and length of dendrites in cultured spinal cord motor neurons

abnormal axon morphology ( J:288278 )

• shorter axons in cultured spinal cord motor neurons

abnormal axon initial segment morphology ( J:288278 )

• accumulation of lysosomal membrane structures in AIS

abnormal neuromuscular synapse morphology ( J:288278 )

• significantly increased number of partially, and some fully, denervated orbicularis oculi muscle NMJs at age 6 months

• normal orbicularis oculi muscle NMJs at age 8-10 weeks

spongiform encephalopathy ( J:288278 )

• spongiform vacuolization of selected brain areas (facial motor nucleus (FMN), subregions of thalamus, trigeminal motor nucleus, hypoglossal nucleus) and anterior horn of spinal cord at age 10 weeks

vision/eye

abnormal orbicularis oculi muscle morphology ( J:288278 )

• reduced eye blink reflex response at ages 6 and 14 months

homeostasis/metabolism

impaired autophagy ( J:288278 )

• reduced autophagosome turnover in cultured motor neuron axons

integument

abnormal vibrissa morphology ( J:288278 )

• impaired whisker movement control at ages 6 and 14 months

muscle

abnormal orbicularis oculi muscle morphology ( J:288278 )

• reduced eye blink reflex response at ages 6 and 14 months

embryo

embryo phenotype ( J:288278 )

N • mice born at normal Mendelian ratio

growth/size/body

growth/size/body region phenotype ( J:288278 )

N • normal weight

abnormal orbicularis oculi muscle morphology ( J:288278 )

• reduced eye blink reflex response at ages 6 and 14 months