Phenotypes associated with this allele

• Allele Symbol: Mlc1^tm1Rhn
• Allele Name: targeted mutation 1, Rene Hen
• Allele ID: MGI:5439272
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mlc1^tm1Rhn/Mlc1^tm1Rhn	129S6/SvEvTac-Mlc1^tm1Rhn	MGI:5816613

Genotype
MGI:5816613

hm1

• Allelic Composition: Mlc1^tm1Rhn/Mlc1^tm1Rhn
• Genetic Background: 129S6/SvEvTac-Mlc1^tm1Rhn

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

homeostasis/metabolism

edema ( J:237219 )

• cerebellum is edematous at 12 months of age

nervous system

abnormal brain white matter morphology ( J:237219 )

• mice develop a late-onset white matter dystrophy characterized by myelin-associated vacuoles and astrocytic swelling

• however, mice do not exhibit macrocephaly

abnormal cerebellum morphology ( J:237219 )

• cerebellum is edematous at 12 months of age

brain vacuoles ( J:237219 )

• vacuoles are seen in the cerebellar white matter by 10 months of age, which are large by 12 months, and expanded throughout the white matter structures, including the corpus callosum, axon bundles of the striatum, mesencephalic reticulum, superior colliculus, and the olfactory and optic tracts, by 15 months

• vacuole formation is not seen in the gray matter

abnormal astrocyte morphology ( J:237219 )

• swollen astrocytes characterized by electron-lucent endfeet are opposed to vessels

abnormal myelin sheath morphology ( J:237219 )

• aged (15 months) mice have 1.2% and 0.3% of myelinated axons in the cerebellar white matter and callosum with abnormal myelin, respectively

• intra-myelin splitting occurs and vacuoles form in the myelin sheath

behavior/neurological

behavior/neurological phenotype ( J:237219 )

N • mice do not show any behavioral abnormalities