Phenotypes Associated with This Genotype

Genotype
MGI:5752905

• Allelic Composition: Kif1a^lgdg/Kif1a^lgdg
• Genetic Background: C3.Cg-Kif1a^lgdg/GrsrJ

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:229662 )

• of 743 pups born from heterozygous intercrosses 139 were mutant, 6 were born dead, 2 were found dead after birth, and 12 were missing before wean age, which is a yield of approximately 21% assuming all dead and missing were mutant, less than the 25% expected

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:229662 )

• one homozygote assessed at 18 days of age was found to have severe hearing loss

behavior/neurological

abnormal limb posture ( J:229662 )

• wWhen raised by their tails they do not splay their legs outward and some cross the front pair and the rear pair

abnormal locomotor coordination ( J:229662 )

• a few homozygotes nearing wean age are found to roll over and over in a struggle to right themselves

hindlimb paralysis ( J:229662 )

• progressive paralysis can first present as early as 2 weeks of age and is eveident by 3 weeks of age, homozygotes lose most of the use of their rear legs such that they drag their rear legs and pull themselves along with their front legs to move

growth/size/body

decreased body size ( J:229662 )

• homozygotes are slightly smaller than littermate controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary spastic paraplegia 30		DOID:0110781	OMIM:610357	J:229662