Phenotypes Associated with This Genotype

Genotype
MGI:3616877

• Allelic Composition: gnd/gnd
• Genetic Background: C3H/HeJ-gnd

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

growth/size/body

decreased body size ( J:11718 )

• smaller size is identifiable at 2.5 weeks of age

nervous system

axonal dystrophy ( J:11718 )

• dystrophic axons are present in large numbers at all levels of the spinal cord in all white matter funiculi and in central grey matter and are commonly found throughout the brain stem, including nucleus gracilis, cerebellar peduncles and deep cerebellar nuclei, red nucleus, and substantia nigra and in the optic nerve and tract, corpus callosum, rostral commissure and fornix of the forebrain

behavior/neurological

abnormal motor coordination/balance ( J:11718 )

• reduced ability to stand on either fore or hind limbs when tested for motor deficits

hunched posture ( J:11718 )

• at 3 months of age, have a humped back

abnormal gait ( J:11718 )

• progressively develop a shaky gait and tend to move the distal hind limbs only below the hock

• at 3 months of age, the hip joint exhibits little flexion and forelimbs tend to splay out to the side

hindlimb paralysis ( J:11718 )

• hind limbs are paralyzed by 8 months of age and are dragged along behind, however never exhibit spasticity

abnormal sexual interaction ( J:11718 )

• only rarely do mutants breed

integument

abnormal coat appearance ( J:11718 )

• exhibit a dull hair coat by 2.5 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurodegeneration with brain iron accumulation 2a		DOID:0110735	OMIM:256600	J:11718