Phenotypes Associated with This Genotype

Genotype
MGI:3789337

• Allelic Composition: Lama2^dy/Lama2^dy
• Genetic Background: 129P1/ReJ-Lama2^dy/J

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

nervous system

abnormal Schwann cell morphology ( J:12730 )

• after P7, the number of Schwann cell nuclei increases

decreased brain weight ( J:7911 )

decreased spinal cord weight ( J:7911 )

demyelination ( J:5331 , J:12730 )

• mice exhibit a 36% decrease in myelinated nerves at the sciatic I level (J:5331)

• in the dorsal and ventral roots of the spinal and cranial peripheral nerves, Schwann cells fail to separate and ensheathe axons so that groups of closely apposed naked axons, normally seen only in early stages, persist into adulthood (J:5331)

• fetal axons of less than 0.5 um diameter lack myelin or Schwann cell ensheathment in the peripheral nervous system (J:12730)

• the onset of myelination is delayed compared to in wild-type mice (J:12730)

• the length of myelinated segments added to an existing population are shorter than in wild-type mice (J:12730)

• myelinated internodal lengths are shorter than in wild-type mice in the peripheral nervous system (J:12730)

abnormal axonal transport ( J:5709 )

• transport of dopamine-beta-hydrolase in nerves is reduced compared to in wild-type mice

homeostasis/metabolism

abnormal lipid level ( J:7911 )

• mice exhibit a reduction in total spinal cord lipid levels and specifically galactolipids and cerebroside sulfatide compared to wild-type mice

• mice exhibit a decrease in total amount of cerebroside sulfatide in the brain compared to wild-type mice

increased cholesterol level ( J:7911 )

• total cholesterol levels in the spinal cord are higher than in wild-type mice

abnormal galactolipid level ( J:7911 )

• total galactolipid levels in the spinal cord are lower than in wild-type mice

growth/size/body

decreased body weight ( J:7911 )

cellular

abnormal Schwann cell morphology ( J:12730 )

• after P7, the number of Schwann cell nuclei increases

abnormal basement membrane morphology ( J:5565 , J:5866 )

• the basement membrane of Schwann cells around myelinated axons is gapped whereas it is absent in amyelinated zones (J:5565)

• nodes exhibit unusually long segments bare of basement membrane (J:5565)

• the internodal gap in the basement membrane of peripheral nerves at the nodes of Ranvier is lengthened compared to in wild-type mice (J:5866)