Phenotypes Associated with This Genotype

Genotype
MGI:5607614

• Allelic Composition: Myo5a^d-l34J/Myo5a^d-l34J
• Genetic Background: BALB/cJ-Myo5a^d-l34J/GrsrJ

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

behavior/neurological

opisthotonus ( J:216055 )

• homozygotes can be seen to tilt their heads to the side, fall over, sprawl on their sides extending their legs together and apart, and curl in an effort to right themselves

ataxia ( J:216055 )

• homozygotes are never able to walk well and they fall, sprawl and have difficulty in righting

impaired balance ( J:216055 )

circling ( J:216055 )

• a few homozygotes display occassional circling

growth/size/body

decreased body size ( J:216055 )

• slightly smaller than normal

mortality/aging

premature death ( J:216055 )

• all homozygotes die by 6 weeks of age

postnatal lethality, incomplete penetrance ( J:216055 )

• most homozygotes die by 4 weeks of age

muscle

opisthotonus ( J:216055 )

• homozygotes can be seen to tilt their heads to the side, fall over, sprawl on their sides extending their legs together and apart, and curl in an effort to right themselves

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Griscelli syndrome type 1		DOID:0060832	OMIM:214450	J:216055