Phenotypes associated with this allele

• Allele Symbol: Rhot1^{tm1d(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1d, Wellcome Trust Sanger Institute
• Allele ID: MGI:5906208
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rhot1^tm1d(EUCOMM)Wtsi/Rhot1^tm1d(EUCOMM)Wtsi	involves: C57BL/6Dnk * C57BL/6N	MGI:5906220

Genotype
MGI:5906220

hm1

• Allelic Composition: Rhot1^{tm1d(EUCOMM)Wtsi}/Rhot1^{tm1d(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6Dnk * C57BL/6N
• Cell Lines: EPD0066_2_F01

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

mortality/aging

neonatal lethality, complete penetrance ( J:240500 )

• mice die within 15 to 30 minutes of birth

nervous system

abnormal neuron morphology ( J:240500 )

• smaller and less developed than wild-type neurons at 14 to 15 days in vitro

abnormal neuron mitochondrial morphology ( J:240500 )

• in neurons, mitochondria accumulates in proximal regions of dendrites with only sparse distribution in distal dendrites compare to in wild-type neurons

• however, mitochondria distribution along the axon is normal

abnormal neurite morphology ( J:240500 )

• decreased neurite length and branchpoint numbers in E18 neurons

abnormal dendrite morphology ( J:240500 )

• decreased length

• increased dendritic complexity in proximal regions and a decrease distally

• however, number of branch points is normal

abnormal axonal transport ( J:240500 )

• reduced anterograde and retrograde mitochondria trafficking in dendrites and in axons of neurons 6 to 7 days and 14 to 15 days in vitro

• reduced velocity of anterograde transport in dendrites

• expression of Rhot2 only partially rescues phenotype

• however, the velocity of remaining motile mitochondria in axons is normal as is sensitivity to glutamate and expression of the endogenous gene restores normal mitochondria trafficking

• however, transportation of endosomes is normal

homeostasis/metabolism

cyanosis ( J:240500 )

• at birth

cellular

abnormal neuron mitochondrial morphology ( J:240500 )

• in neurons, mitochondria accumulates in proximal regions of dendrites with only sparse distribution in distal dendrites compare to in wild-type neurons

• however, mitochondria distribution along the axon is normal