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Phenotypes Associated with This Genotype
Genotype
MGI:5470095
Allelic
Composition
Psmc4tm1.1Ryot/Psmc4tm1.2Ryot
Tg(SLC18A3-cre)KMisa/0
Genetic
Background
involves: C57BL/6 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psmc4tm1.1Ryot mutation (0 available); any Psmc4 mutation (17 available)
Psmc4tm1.2Ryot mutation (0 available); any Psmc4 mutation (17 available)
Tg(SLC18A3-cre)KMisa mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Limb clasping and severe kyphosis in Psmc4tm1.1Ryot/Psmc4tm1.2Ryot Tg(SLC18A3-cre)KMisa/0 mice

mortality/aging
N
• mice exhibit normal survival until at least 48 weeks of age

nervous system
• at 12 weeks with few at 40 weeks of age
• as early as 6 weeks of age and persisting until 40 weeks of age
• chromatolytic neurons and basophilic inclusions with eosinophilic cytoplasm at 12 weeks of age
• from 6 weeks of age
• loss of motor neurons with cytoplasmic Tardbp/TDP-43

behavior/neurological
• 35 week old mice show abnormal limb clasping reflex during tail hanging
• disturbed and tremulous hindlimb movement with tail suspension
• progressive deterioration of motor function after 26 weeks of age

skeleton
• severe at advanced stage indicating weakness of paraspinal muscles

growth/size/body

hematopoietic system
• at 12 weeks with few at 40 weeks of age

immune system
• at 12 weeks with few at 40 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
amyotrophic lateral sclerosis DOID:332 OMIM:PS105400
J:193770


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/17/2023
MGI 6.22
The Jackson Laboratory