Phenotypes associated with this allele

• Allele Symbol: Ube4b^tm1Kei
• Allele Name: targeted mutation 1, Keiichi I Nakayama
• Allele ID: MGI:3611069
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ube4b^tm1Kei/Ube4b^tm1Kei	involves: C57BL/6	MGI:3611301
ht2	Ube4b^tm1Kei/Ube4b^+	involves: C57BL/6	MGI:3611302

Genotype
MGI:3611301

hm1

• Allelic Composition: Ube4b^tm1Kei/Ube4b^tm1Kei
• Genetic Background: involves: C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:103761 )

• embryos are grossly abnormal after E12.5 and die by midgestation

cardiovascular system

abnormal vein morphology ( J:103761 )

• dilation of veins at E12.5 and E13.5

abnormal myocardium layer morphology ( J:103761 )

• undeveloped and compact myocardial layer

abnormal myocardial fiber morphology ( J:103761 )

• defective assembly of myosin in cardiac muscle cells

abnormal myocardial trabeculae morphology ( J:103761 )

• reduced trabeculation in the heart

enlarged heart ( J:103761 )

pericardial edema ( J:103761 )

• edema and bleeding in the pericardial space

pericardial effusion ( J:103761 )

• first evident at E11.5

hemorrhage ( J:103761 )

• massive hemorrhage in the brain ventricles and in cervical and abdominal subcutaneous tissue

intraventricular hemorrhage ( J:103761 )

congestive heart failure ( J:103761 )

muscle

abnormal myocardium layer morphology ( J:103761 )

• undeveloped and compact myocardial layer

abnormal myocardial fiber morphology ( J:103761 )

• defective assembly of myosin in cardiac muscle cells

abnormal myocardial trabeculae morphology ( J:103761 )

• reduced trabeculation in the heart

increased cardiomyocyte apoptosis ( J:103761 )

• most cardiomyoctyes undergo apoptosis at E13.5, however increased apoptosis is not seen in tissues other than the heart

homeostasis/metabolism

pericardial edema ( J:103761 )

• edema and bleeding in the pericardial space

pericardial effusion ( J:103761 )

• first evident at E11.5

nervous system

intraventricular hemorrhage ( J:103761 )

cellular

abnormal cell physiology ( J:103761 )

• polyubiquitylation activity for an E4 substrate is greatly reduced in MEFs

increased cardiomyocyte apoptosis ( J:103761 )

• most cardiomyoctyes undergo apoptosis at E13.5, however increased apoptosis is not seen in tissues other than the heart

growth/size/body

enlarged heart ( J:103761 )

Genotype
MGI:3611302

ht2

• Allelic Composition: Ube4b^tm1Kei/Ube4b⁺
• Genetic Background: involves: C57BL/6

nervous system

abnormal medulla oblongata morphology ( J:103761 )

• the nucleus gracilis is enlarged and contains numerous axonal spheroids of various sizes

abnormal Purkinje cell morphology ( J:103761 )

• observe numerous electron-dense bodies in the ER of dystrophic Purkinje cells

Purkinje cell degeneration ( J:103761 )

• observe degenerated Purkinje cells with a reduced number of dendritic processes projecting into the molecular layer at 13 months of age

axonal dystrophy ( J:103761 )

• enlargement of dystrophic axons, most pronounced in the terminal segment

• dystrophic axons contain abundant neurofilaments, electron-dense bodies, multivesicular profiles, tubular structures, and structures resembling Hirano bodies

behavior/neurological

impaired coordination ( J:103761 )

• show impaired performance in the rotarod test from 11 months of age

abnormal gait ( J:103761 )

• progressive hindlimb gait abnormalities are apparent from 7 months of age and are followed at later ages by dragging of the hind legs