Phenotypes associated with this allele

• Allele Symbol: Wdr81^nur5
• Allele Name: neurological 5
• Allele ID: MGI:2671731
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Wdr81^nur5/Wdr81^nur5	involves: C57BL/6J	MGI:3027204

Genotype
MGI:3027204

hm1

• Allelic Composition: Wdr81^nur5/Wdr81^nur5
• Genetic Background: involves: C57BL/6J

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

nervous system

abnormal neuron mitochondrial morphology ( J:196651 )

• incomplete or absent outer membrane is observed in Purkinje cell dendrites from 21 day old mice

• mitochondria is not distended or vacuolated

abnormal Purkinje cell dendrite morphology ( J:196651 )

• dendrites from Purkinje cells from 21 day old mice contain aberrant mitochondria that appear as large, electron dense, spheroid structures

decreased Purkinje cell number ( J:196651 )

• reduced numbers of Purkinje cells beginning at P28

• cell loss is progressive and intensifies at P32

decreased cerebellar granule cell number ( J:196651 )

• granule cell loss is observed at P35

decreased retina photoreceptor cell number ( J:196651 )

• photoreceptor loss is observed in the outer nuclear layer at P15

behavior/neurological

tremors ( J:85113 , J:196651 )

• animals are described as quivering, especially when moving; age of onset is 3 months (J:85113)

ataxia ( J:196651 )

• progressive ataxia

impaired coordination ( J:196651 )

• decreased latency on rotarod at P60 as compared to controls

abnormal gait ( J:196651 )

• impaired hindlimb gait at 60 days as compared to controls

• gait is similar to control at P21

short stride length ( J:196651 )

• mice (P60) take shorter and more frequent steps

• increased variability of stance width and paw area between strides

cellular

disorganized mitochondrial cristae ( J:196651 )

• mild to severe disorganization of cristae is observed in Purkinje cell dendrites from 21 day old mice

abnormal neuron mitochondrial morphology ( J:196651 )

• incomplete or absent outer membrane is observed in Purkinje cell dendrites from 21 day old mice

• mitochondria is not distended or vacuolated

increased mitochondrial size ( J:196651 )

• mitochondria from Purkinje cell dendrites exhibit a spherical shape and increased size (increase diameter and reduced surface to volume ratio)

• mitochondria is 5 times wider than control mitochondria, although length is the same

• mitochondrial volume is 5 times that of control

growth/size/body

weight loss ( J:196651 )

• mice exhibit weight loss at P60 as compared to controls

vision/eye

decreased retina photoreceptor cell number ( J:196651 )

• photoreceptor loss is observed in the outer nuclear layer at P15

decreased total retina thickness ( J:196651 )

• retina is thinner by P28 as compared to controls