Phenotypes Associated with This Genotype

Genotype
MGI:5577168

• Allelic Composition: Dst^Tg4/Dst^Tg4
• Genetic Background: involves: C57BL/6 * CD-1

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

mortality/aging

postnatal lethality ( J:209161 )

• mice die at around P20

growth/size/body

slow postnatal weight gain ( J:209161 )

• at around 2 weeks of age, mice show an arrest in weight-gain

behavior/neurological

limb grasping ( J:209161 )

• hind limb clasping is seen at P15 or earlier

impaired coordination ( J:209161 )

• mice fall off a beam and are unable to effectively balance and/or grip to remain on the suspended beam

abnormal gait ( J:209161 )

• at around 2 weeks of age, mice show ambulating abnormalities and at P20, mice exhibit an aberrant gait

nervous system

abnormal muscle spindle morphology ( J:209161 )

• degeneration of muscle spindles in tibialis anterior muscles

abnormal axon morphology ( J:209161 )

• microtubule network is disorganized, with an accumulation of beta-III tubulin throughout axons

abnormal sensory neuron morphology ( J:209161 )

• dilated rough ER sheets and Golgi membranes in P5 sensory neurons

abnormal neuromuscular synapse morphology ( J:209161 )

• increase in the number of immature endplates and neuromuscular junctions in muscles

neuron degeneration ( J:209161 )

• sensory neuron degeneration begins at P15

abnormal dorsal root ganglion morphology ( J:209161 )

• dorsal sensory roots are smaller, have fewer axons, axons undergoing degeneration and axonal swellings

small dorsal root ganglion ( J:209161 )

axon degeneration ( J:209161 )

• dorsal sensory roots show axons undergoing degeneration

immune system

conjunctivitis ( J:209161 )

• P20 mice occasionally exhibit conjunctivitis

muscle

abnormal muscle spindle morphology ( J:209161 )

• degeneration of muscle spindles in tibialis anterior muscles

vision/eye

conjunctivitis ( J:209161 )

• P20 mice occasionally exhibit conjunctivitis

blepharoptosis ( J:209161 )

• P20 mice occasionally exhibit blepharoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary sensory neuropathy		DOID:0050548	OMIM:PS162400	J:209161