Mouse Genome Informatics
cn
    Mnx1tm4(cre)Tmj/Mnx1+
Tardbptm1.1Ckjs/Tardbptm1.2Cjks

involves: 129S1/Sv * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• average lifespan of mutants showing amyotrophic lateral sclerosis-like phenotypes is 10 months

growth/size/body
• average weight is slightly lower at early birth than in controls and this difference becomes more pronounced with age, with a significant weight difference after 8 weeks of age
• while mutants show a peak of weight gain during 90-100 days of age, soon after this time, they begin to show weight loss

behavior/neurological
• abnormal hind limb clasping is seen after 13 weeks of age
• mutants show a deficiency in the rotarod test after 13 weeks of age

immune system
• microglia activation is seen in the lateroventral lumbar spinal cord

muscle
• more males than females develop amyotrophic lateral sclerosis-like phenotypes with a male/female ratio of 3:1

nervous system
• microglia activation is seen in the lateroventral lumbar spinal cord
• in the spinal cord
• accumulation of ubiquitinated proteins in the spinal cord motor neurons at 20 weeks of age
• progressive loss of motor neurons, with a 10% decrease of spinal cord motor neurons at 10 weeks of age and a large loss of ChAT-positive motor neurons at 20 weeks of age
• 46% and 25% reduction in alpha and gamma motor neurons, respectively, in the lumbar regions of the spinal cord at 20 weeks of age
• more males than females develop amyotrophic lateral sclerosis-like phenotypes with a male/female ratio of 3:1
• motor neuron loss, reactive astrocytosis, microglia activation and accumulation of polyubiquitinated proteins in the ventral horn

skeleton
• mutants exhibit kyphosis beginning at 20 weeks of age which becomes severe at 24 weeks

hematopoietic system
• microglia activation is seen in the lateroventral lumbar spinal cord

Mouse Models of Human Disease
OMIM IDRef(s)
Amyotrophic Lateral Sclerosis 1; ALS1 105400 J:190254