Phenotypes associated with this allele

• Allele Symbol: Fbxo45^tm1Kei
• Allele Name: targeted mutation 1, Keiichi I Nakayama
• Allele ID: MGI:3849742
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fbxo45^tm1Kei/Fbxo45^tm1Kei	B6.129P2-Fbxo45^tm1Kei	MGI:3849743

Genotype
MGI:3849743

hm1

• Allelic Composition: Fbxo45^tm1Kei/Fbxo45^tm1Kei
• Genetic Background: B6.129P2-Fbxo45^tm1Kei

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

mortality/aging

neonatal lethality, complete penetrance ( J:149890 )

• all die within 30 min after birth

respiratory system

respiratory failure ( J:149890 )

• fail to expand lungs after birth despite apparently normal lung morphology

nervous system

nervous system phenotype ( J:149890 )

N • despite defects in the major axon tracts of the brain outgrowth of axons from cultured neurons appears normal and the morphology of the corpus callosum is normal

abnormal axon fasciculation ( J:149890 )

• cutaneous sensory neurons display excessive branching with overgrown axons and nerves that are defasciculated

abnormal neuronal migration ( J:149890 )

• cells labeled with BrdU on E14.5 are dispersed throughout the cortical plate on E18.5 rather than being concentrated in the outer most layer as in wild-type controls

• cortical interneurons abnormally accumulate in the basal telencephalon where they arise rather than migrating to the cortex or hippocampus

abnormal telencephalon development ( J:149890 )

• cortical interneurons abnormally accumulate in the basal telencephalon where they arise rather than migrating to the cortex or hippocampus

• the corticofugal and thalamocortical projections in the subcortical telencephalon are absent

abnormal cortical plate morphology ( J:149890 )

• layer specific differences in staining and cell density are not clearly seen in the cortical plate on P0

• cells labeled with BrdU on E14.5 are dispersed throughout the cortical plate on E18.5 rather than being concentrated in the outer most layer as in wild-type controls

decreased brain size ( J:149890 )

• at E18.5

absent brain internal capsule ( J:149890 )

abnormal sensory neuron innervation pattern ( J:149890 )

• cutaneous sensory neurons display excessive branching with overgrown axons and nerves that are defasciculated

abnormal nervous system tract morphology ( J:149890 )

• the major axon tracts in the brain are abnormal

absent anterior commissure ( J:149890 )

abnormal neuromuscular synapse morphology ( J:149890 )

• the band of acetylcholine receptor clusters in the diaphragm endplate is much narrower compared to wild-type controls at E16.5 and partially aneural at E18.5

• in some mice an ectopic endplate band forms in the region of the pars sternalis of the diaphragm as the result of synapses formed between the right phrenic nerve and the muscle in the left portion of the pars sternalis

abnormal spinal cord grey matter morphology ( J:149890 )

• laterally expanded

abnormal motor neuron morphology ( J:149890 )

• the lateral motor column is poorly formed and the medial motor column is abnormally distributed in the spinal cord

abnormal motor neuron innervation pattern ( J:149890 )

• innervation of the diaphragm is incomplete at E14.5 and E15.5

• branching and projection of the phrenic nerve is impaired with axons failing to reach the most ventral regions of the diaphragm

• in some cases the right and left phrenic nerves extend across the endplate band of muscle in the diaphragm and become entangled

behavior/neurological

trunk curl ( J:149890 )

• newborns display a tucked position

no spontaneous movement ( J:149890 )

skeleton

kyphosis ( J:149890 )

integument

pallor ( J:149890 )

• seen at P0

cellular

abnormal axon fasciculation ( J:149890 )

• cutaneous sensory neurons display excessive branching with overgrown axons and nerves that are defasciculated

abnormal neuronal migration ( J:149890 )

• cells labeled with BrdU on E14.5 are dispersed throughout the cortical plate on E18.5 rather than being concentrated in the outer most layer as in wild-type controls

• cortical interneurons abnormally accumulate in the basal telencephalon where they arise rather than migrating to the cortex or hippocampus