All Phenotypes Gal3st1<tm1Kho> MGI Mouse

abnormal involuntary movement ( J:78560 )

• at greater than 6 weeks of age, some homozygotes exhibit involuntary movement

tremors ( J:78560 )

• at >6 weeks of age, homozygotes display a pronounced tremor

ataxia ( J:78560 )

• at >6 weeks of age, homozygotes display progressive ataxia but are able to survive to >1 year of age

impaired limb coordination ( J:78560 )

• homozygotes drag their hindlimbs during walking

weakness ( J:78560 )

• homozygotes are born healthy and are able to survive to >1 year of age, in the absence of renal failure or digestive disorders

• however, homozygotes begin to exhibit hindlimb weakness by 6 weeks of age

• also, homozygotes are unable to grip a horizontal bar with their forelimbs, suggesting forelimb weakness

limp posture ( J:78560 )

• homozygotes display a flat posture because of hindlimb weakness

abnormal brain morphology ( J:78560 )

• homozygotes show a complete loss of sulfatide in brain

• no differences in other glycolipid composition or cholesterol sulfate levels are observed; oligodendrocyte differentiations appears unaffected

abnormal axon morphology ( J:78095 , J:78560 )

• increased nodal lengths in optic and peripheral nerves as indicated by clustering of voltage gated Na+ channels (J:78095)

• clustering of voltage gated K+ channels on one side of the paranode or juxtaparanode in the optic nerve (J:78095)

• extension of voltage gated K+ channels from the juxtaparanodal to the paranodal region sometimes overlapping with Na+ channels (J:78095)

• lower density of both channels which declines with age (J:78095)

• voltage channels disappear at 22 weeks from the optic nerve (J:78095)

• voltage gated Na+ channels become more diffusely distributed with age (J:78095)

• at 13 weeks, homozygotes show focal axonal swelling (axonal spheroid formation) in the cerebellar white matter and in the granular layers (J:78560)

abnormal paranode morphology ( J:220956 )

• in quality not quantity, with markedly reduced number of transverse bands

abnormal myelination ( J:78560 )

• at 13 weeks, axons are well myelinated but myelin vacuolation is detected in the cerebellar white matter, diencephalon, brainstem, and the spinal anterior column

• untrastructural analysis of myelinated nerve fibers indicates disorganized termination of the lateral loops at the node of Ranvier: paranodal loops are turned away from the axon

• however, maximal nerve conduction velocity of the sciatic motor nerve and the pyramidal tract fibers remain normal until 18 weeks

azoospermia ( J:78560 )

• homozygotes show absence of sperm in the epididymis

multinucleated giant male germ cells ( J:78560 )

• syncytial multinucleated germ cells are formed at the metaphase of the first meiotic division

increased male germ cell apoptosis ( J:78560 )

• TUNEL assays indicated an increase of luminal distributed apoptotic germ cells in the seminiferous tubules of 4-wk-old testes

abnormal testis morphology ( J:78560 )

• homozygotes lack seminolipid in the testis; in contrast to the brain, the precursor GalEAG shows significant accumulation in testes

decreased testis weight ( J:78560 )

• at 12 weeks of age, male homozygotes show a 35% reduction in testicular weight relative to wild-type males

• in contrast, seminal vesicles are of normal size and Leydig and Sertoli cells appear unaffected

arrest of spermatogenesis ( J:78560 )

• at 8 weeks of age, haploid cells and secondary spermatocytes are absent from the seminiferous tubules, whereas spermatogonia and primary spermatocytes appear normal

• late spermatocytes display degeneration ranging from nuclear condensation to the formation of syncytial multinucleated cells at the metaphase of the first meiotic division

arrest of male meiosis ( J:78560 )

• homozygotes display an abrupt arrest of spermatogenesis during the late meiotic prophase

male infertility ( J:78560 )

• male homozygotes are infertile

• however, females are able to breed