Phenotypes Associated with This Genotype

Genotype
MGI:7316771

• Allelic Composition: Sbf1^em1Frobi/Sbf1^em1Frobi
• Genetic Background: C57BL/6N-Sbf1^em1Frobi

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

growth/size/body

decreased body size ( J:326685 )

• mice are approximately 30% smaller than wild-type mice

decreased body weight ( J:326685 )

• reduced weight is seen at weaning and continues throughout life

nervous system

abnormal axon radial sorting ( J:326685 )

• sciatic nerves at 3 months show an increase in the proportion of bundled axons that have a diameter of more than 1 um, indicating delayed or arrested sorting of some large axons from bundles

abnormal sciatic nerve morphology ( J:326685 )

• mice exhibit fewer total myelinated axons in sciatic nerves

• sciatic nerves at 3 months show an increase in unmyelinated axons that are in 1:1 relationships with Schwann cells, although most axons are smaller than 1 um in diameter

• however, the number of axons per bundle does not differ

• a decrease in the percentage of bundles containing between 11 and 20 axons is seen in sciatic nerves

• bundled axons of sciatic nerves are more likely to be incompletely enwrapped by Schwann cell processes, as evidenced by direct contact of axons with basal laminae

• however, mice do not show loss of myelin outfoldings and show normal myelination, with no alterations in myelin thickness or diameter of myelinated axons

reproductive system

male infertility ( J:326685 )

behavior/neurological

behavior/neurological phenotype ( J:326685 )

N • overt motor or gait deficiencies are not seen at P38 or 17 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 4B3		DOID:0110194	OMIM:615284	J:326685