Phenotype Image Detail

Image

Caption

The phenotype of Reep1^tm1.1Cahb/Reep1^tm1.1Cahb (-/-) mice is progressive, dose-dependent, and associated with a neurodegenerative rather than a neurodevelopmental pathology of upper motor neuron axons. (A) Measurement of the foot-base angle. Shown are images of 20-week-old mice immediately prior to hind paw lifting. (B) Genotype dependence of foot-base angle over time. Error bars represent the SEM. *P < 0.05 (two-way ANOVA). (C) Semithin sections of the corticospinal tract in the spinal cord of 30-week-old mice at the lumbar level. Arrow and asterisk denote pathological structures, which are interspersed between morphological intact axons of mutant but not wild-type (WT) mice. Scale bars: 1 um. (D) Ultrastructural characterization of pathologies as highlighted in C. Dark structures are packed with electron-dense material (left panel); vacuolar structures are regions devoid of cellular material (right panel). The presence of myelin sheaths (arrowheads) indicates an axonal origin. Scale bars: 400 nm. (E) Neuronal cell bodies in the motor cortices of 13-month-old wild-type and mutant mice were identified by NeuN immunoreactivity. Scale bars: 200 um. (F) Layer-wise quantification revealed no neuron loss in mutant mice. Error bars represent the SEM. (G) Lower motor neurons are not involved as judged from CMAPs upon sciatic nerve stimulation recorded from the musculus triceps surae. Error bars represent the SEM. (H) Cortical neurons obtained from P1 pups and cultured for 3 days. Neurites were visualized with phalloidin (Phl). Axons were labeled by the pan-axonal neurofilament marker SMI312 (SMI). Scale bars: 50 um. (I) Quantification of the length of the longest axonal projection of each neuron. Error bars represent the SEM.

Copyright

This image is from Beetz C, J Clin Invest 2013 Oct 1;123(10):4273-82 and is displayed with the permission of the American Society for Clinical Investigation who owns the Copyright. J:204006

Associated Alleles

Symbol	Name
Reep1^tm1.1Cahb	receptor accessory protein 1; targeted mutation 1.1, Christian Hubner

Associated Genotypes

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