Phenotypes associated with this allele

• Allele Symbol: Reep1^tm1.1Cahb
• Allele Name: targeted mutation 1.1, Christian Hubner
• Allele ID: MGI:5558070
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Reep1^tm1.1Cahb/Reep1^tm1.1Cahb	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5558080
ht2	Reep1^tm1.1Cahb/Reep1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5558081

Genotype
MGI:5558080

hm1

• Allelic Composition: Reep1^tm1.1Cahb/Reep1^tm1.1Cahb
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

Reep1^tm1.1Cahb/Reep1^tm1.1Cahb mice exhibit kyphosis and gait abnormalities

behavior/neurological

abnormal posture ( J:204006 )

• at rest, the trunk and tail are not lifted, and the paws contact the ground with most of their plantar surface

abnormal locomotor behavior ( J:204006 )

• abducted during locomotion with extreme external rotation of the paws and simultaneous forward movement in both hind limbs at 12 months

• mice exhibit spastic clonus upon skilled walking challenge

abnormal gait ( J:204006 )

• at 16 and 20 months

• gait impairment progresses with age

nervous system

abnormal motor neuron morphology ( J:204006 )

• cortical motor neurons exhibit reduced complexity of the peripheral endoplasmic reticulum compared with wild-type mice

• however, mice do not exhibit loss of cortical motor neuron stomata at 13 months

axon degeneration ( J:204006 )

• in the spinal cord at 30 weeks

• however, axon outgrowth is normal

skeleton

kyphosis ( J:204006 )

Genotype
MGI:5558081

ht2

• Allelic Composition: Reep1^tm1.1Cahb/Reep1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

nervous system

abnormal motor neuron morphology ( J:204006 )

• cortical motor neurons exhibit in intermediate reduction in the complexity of the peripheral endoplasmic reticulum compared with wild-type mice