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Phenotypes Associated with This Genotype
Genotype
MGI:4418351
Allelic
Composition
Tg(CAG-SPTLC1*C133W)8EAmcc/0
Genetic
Background
involves: C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• as early as 2 months and persisting up to 15 months, mice exhibit a reduction in sperm compared to in wild-type mice
• however, this phenotype is rescued in double transgenic mice expressing the wild-type protein
• reduced 40%

reproductive system
N
• oogenesis is normal
• reduced 40%
• as early as 2 months and persisting up to 15 months, mice exhibit a reduction in sperm compared to in wild-type mice
• however, this phenotype is rescued in double transgenic mice expressing the wild-type protein
• as early as 2 months and persisting up to 15 months (J:155748)

nervous system
• mice exhibit loss of pancreatic neurites unlike wild-type mice
• mice exhibit a loss of larger caliber axons in the ventral and dorsal roots of the lumbar region of the spinal cord compared with wild-type mice
• however, no axonal spheroids are detected
• thinning in large axons of the ventral, but not dorsal, roots (J:106812)
• at 15 months, myelinated axons exhibit a reduced diameter compared with wild-type axons (J:155748)
• at 14 months, mice exhibit small fiber sensory neuropathy unlike wild-type mice
• at 15 months, mice exhibit a loss of small unmyelinated axons in the sciatic nerve unlike wild-type mice
• mice exhibit mixed motor-sensory large and small fiber degeneration unlike wild-type mice
• however, axon morphology is normal in double transgenic mice expressing the wild-type protein
• the cross-sectional area of the lumbar ventral roots of the spine is decreased compared to in wild-type mice

digestive/alimentary system
• as early as 4 months of age, mice exhibit exocrine pancreas atrophy unlike wild-type mice
• mice exhibit decreased fecal production compared with wild-type mice
• the distance traveled by a bolus is shorter than in wild-type mice

behavior/neurological
• when suspended by their tails, mice exhibit rapid hind leg kicking and distinctive extension of hind legs parallel to the tail unlike similarly treated wild-type mice
• at 6 to 8 months, mice exhibit hyperkinesis with increased leg kicking compared with wild-type mice
• however, motor performance is otherwise normal
• at 14 months on a rotarod
• mice exhibit hyperpathy at 14 months
• however, this phenotype is rescued in double transgenic mice expressing the wild-type protein

growth/size/body
• mice are 15% to 20% smaller than wild-type mice
• mice are smaller at 1 month of age and this size difference continues until sacrifice at 10 months of age

limbs/digits/tail
N
• unlike patients with HSAN1, mice do not exhibit ulcerative mutilations

endocrine/exocrine glands
• mice exhibit loss of pancreatic neurites unlike wild-type mice
• as early as 4 months of age, mice exhibit exocrine pancreas atrophy unlike wild-type mice

hematopoietic system

immune system

integument
• mice exhibit hyperpathy at 14 months
• however, this phenotype is rescued in double transgenic mice expressing the wild-type protein

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hereditary sensory neuropathy DOID:0050548 OMIM:PS162400
J:106812


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
01/12/2021
MGI 6.16
The Jackson Laboratory