Phenotypes associated with this allele

• Allele Symbol: Large1^{enr-Tg(MbpReg)36Pop}
• Allele Name: enervated
• Allele ID: MGI:1889325
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Large1^enr-Tg(MbpReg)36Pop/Large1^enr-Tg(MbpReg)36Pop	involves: C57BL/6J * DBA/2J	MGI:3844908
hm2	Large1^enr-Tg(MbpReg)36Pop/Large1^enr-Tg(MbpReg)36Pop	involves: C57BL/6J * DBA/2J * SJL/J	MGI:4367254
ht3	Large1^enr-Tg(MbpReg)36Pop/Large1^+	involves: C57BL/6J * DBA/2J * SJL/J	MGI:4367347

Genotype
MGI:3844908

hm1

• Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop}
• Genetic Background: involves: C57BL/6J * DBA/2J

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

mortality/aging

premature death ( J:16281 )

• mice do not survive past 11 months dying between 6 and 8 months

postnatal lethality ( J:16281 )

• half as many mice as expected reach weaning; cause and time of death is unknown

reproductive system

reduced female fertility ( J:16281 )

♀ • few litters are delivered

male infertility ( J:16281 )

♂ • no successful matings occur

muscle

abnormal skeletal muscle morphology ( J:16281 )

• at 46 weeks, mice exhibit foci of calcification in the muscle unlike in wild-type mice

abnormal skeletal muscle fiber morphology ( J:16281 )

• muscle fibers lose their normal polygonal contour, nuclei are centrally located, and individual fibers vary in size unlike in wild-type mice

• older mice exhibit increased endomysial fibrous tissue and adipose tissue

skeletal muscle fiber necrosis ( J:16281 )

• with or without phagocytosis as early as 6 weeks of age

skeletal muscle endomysial fibrosis ( J:16281 )

behavior/neurological

abnormal posture ( J:16281 )

• by 3 to 4 months mice begin to display postural abnormalities unlike wild-type mice

• in some mice hindlimbs are drawn close together, splayed outward in a frog stance, or dragged one hindlimb stiffly behind them

abnormal limb posture ( J:16281 )

• mice display hindlimb stiffness

nervous system

abnormal myelination ( J:16281 )

• unmyelinated peripheral axons are observed unlike in wild-type mice associated with the absence of intervening Schwann cell cytoplasm between unmyelinated fibers

skeleton

kyphosis ( J:16281 )

• in the thoracic region

growth/size/body

decreased body size ( J:16281 )

• at 2 to 3 weeks of age

Genotype
MGI:4367254

hm2

• Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop}
• Genetic Background: involves: C57BL/6J * DBA/2J * SJL/J

nervous system

abnormal Schwann cell morphology ( J:29784 )

• both heterozygotes and homozygotes show enlarged Schwann cell-axon networks in a small number of myelinated axons of peripheral nerves by 10-14 weeks of age

abnormal sciatic nerve morphology ( J:29784 )

• at 10 to 14 weeks of age the sciatic nerve distal to its exit from the vertebral column has bundles of small axons without intervening Schwann cell cytoplasm, bundles of larger diameter unmyelinated axons, isolated Schwann cell-ensheathed large unmyelinated axons, axons with redundant myelin sheaths, and dystrophic axons

abnormal myelination ( J:29784 )

abnormal peripheral nervous system regeneration ( J:29784 )

• regeneration of sciatic nerves esperimentally crushed at 10-14 weeks of age is impaired such that 4 weeks after crush there are fewer myelinated axons per area, smaller fiber diameter, smaller myelin thickness, smaller percentage myelin, and smaller percentage axon, ther are also more myelin ovoids and lipid droplets

• 8 weeks after experimental crushing of the sciatic nerve the hindlimb is noticeably impaired compared while controls have a normal gait, and lipid droplets are still found near the crush site

• facial nerves, which are predominantly motor fibers, and sural nerves, which are predominantly sensory fibers, both show limited regeneration 4 weeks after an experimental crush injury

• wild-type sciatic nerve engraftment progresses poorly within the distal endogenous homozygous nerves with regeneration of the tissue severely impaired where wild-type axons encounter homozygous or heterozygous host Schwann cells

Genotype
MGI:4367347

ht3

• Allelic Composition: Large1^{enr-Tg(MbpReg)36Pop}/Large1⁺
• Genetic Background: involves: C57BL/6J * DBA/2J * SJL/J

nervous system

abnormal Schwann cell morphology ( J:29784 )

• both heterozygotes and homozygotes show enlarged Schwann cell-axon networks in a small number of myelinated axons of peripheral nerves by 10-14 weeks of age

abnormal peripheral nervous system regeneration ( J:29784 )

• regeneration of sciatic nerves esperimentally crushed at 10-14 weeks of age is impaired, but to a lesser degree than in homozygotes

• wild-type sciatic nerve engraftment progresses poorly within the distal endogenous heterozygous nerves with regeneration of the tissue impaired where wild-type axons encounter homozygous or heterozygous host Schwann cells