Phenotypes Associated with This Genotype

Genotype
MGI:5629933

• Allelic Composition: Rab18^{Gt(EUCE0233a03)Hmgu}/Rab18^{Gt(EUCE0233a03)Hmgu}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:211808 )

• homozygotes are found at non-Mendelian ratios at weaning, but not at embryonic stages, indicating some perinatal death

vision/eye

abnormal pupillary reflex ( J:211808 )

• analysis of the pupillary response to dark or to the mydriatic agent tropicamide, shows permanently constricted pupils

abnormal pupil morphology ( J:211808 )

• atonic pupils

miotic pupil ( J:211808 )

nuclear cataract ( J:211808 )

• mice exhibit dense nuclear cataracts at the time of eye opening (P12)

• at P1.5, large vacuoles, pyknotic nuclei and nuclear aggregates are seen in the eye characteristic of cataract development

• however, retinal degeneration is not seen

abnormal eye development ( J:211808 )

• at E12.5, the posterior epithelial cells have not reached the lens anterior, indicating a delay in eye development

• by E15.5, the lens vesicle closes, but vacuoles form at the periphery

behavior/neurological

abnormal pupillary reflex ( J:211808 )

• analysis of the pupillary response to dark or to the mydriatic agent tropicamide, shows permanently constricted pupils

limb grasping ( J:211808 )

• from 3 weeks of age, mice exhibit hind limb grasping when lifted by the tail

weakness ( J:211808 )

• progressive hindlimb weakness

• however, atrophy of skeletal muscle is not seen and motor endplate morphology is normal

nervous system

abnormal nervous system morphology ( J:211808 )

• mice have disorganized cytoskeletons in peripheral nerves, with disorganization of microtubule and neurofilament networks

• however, postsynaptic motor endplates are normal and normally innervate all the muscle types examined

abnormal neuromuscular synapse morphology ( J:211808 )

• majority of motor nerve terminals of distal motor axons are abnormal, with accumulation of microtubules and neurofilaments at the neuromuscular junction

• mice however, show normal synaptic vesicle recycling at peripheral synapses and in the central nervous system

abnormal sciatic nerve morphology ( J:211808 )

• sciatic nerves show gross disorganization of the cytoskeleton with randomly oriented filaments

adipose tissue

increased white fat cell lipid droplet size ( J:211808 )

• enlargement of lipid droplets in mouse embryonic fibroblasts following oleic acid treatment

cellular

abnormal cell cytoskeleton morphology ( J:211808 )

• mice have disorganized cytoskeletons in peripheral nerves, with disorganization of microtubule and neurofilament networks

• sciatic nerves show gross disorganization of the cytoskeleton with randomly oriented filaments

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Warburg micro syndrome 3		DOID:0110718	OMIM:614222	J:211808