Phenotypes associated with this allele

• Allele Symbol: Trpv4^tm1Lutzy
• Allele Name: targeted mutation 1, Cathy Lutz
• Allele ID: MGI:5661418
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Trpv4^tm1Lutzy/Trpv4^tm1Lutzy	involves: C57BL/6J	MGI:8332066

Genotype
MGI:8332066

hm1

• Allelic Composition: Trpv4^tm1Lutzy/Trpv4^tm1Lutzy
• Genetic Background: involves: C57BL/6J

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

behavior/neurological

impaired balance ( J:352175 )

• increased latency to fall in horizontal balance test

hunched posture ( J:352175 )

• difficulty maintaining upright head posture

akinesia ( J:352175 )

• no ambulation in hours before death

forelimb paralysis ( J:352175 )

craniofacial

domed cranium ( J:352175 )

short snout ( J:352175 )

embryo

embryo phenotype ( J:352175 )

N • mice born at expected Mendelian ratios

growth/size/body

short snout ( J:352175 )

slow postnatal weight gain ( J:352175 )

mortality/aging

lethality at weaning, complete penetrance ( J:352175 )

nervous system

motor neuron degeneration ( J:352175 )

• fewer neurons in C1 spinal cord

• normal in C2, C3, C8, L4 and L5 spinal cord

abnormal axon morphology ( J:352175 )

• swelling and fragmentation of proximal axons in C1, C2 and C3 spinal cord

• normal in C8, L4 and L5 spinal cord

respiratory system

respiratory distress ( J:352175 )

• labored breathing in hours before death

skeleton

domed cranium ( J:352175 )

kyphosis ( J:352175 )