Phenotypes associated with this allele

• Allele Symbol: Ubr4^tm1.2Nkt
• Allele Name: targeted mutation 1.2, Yoshihiro Nakatani
• Allele ID: MGI:5532332
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ubr4^tm1.2Nkt/Ubr4^tm1.2Nkt Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * CBA * SJL	MGI:5532401

Genotype
MGI:5532401

cn1

• Allelic Composition: Ubr4^tm1.2Nkt/Ubr4^tm1.2Nkt; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA * SJL

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

Mild growth retardation and brain abnormalities in Ubr4^tm1.2Nkt/Ubr4^tm1.2Nkt Edil3^{Tg(Sox2-cre)1Amc}/0 embryos

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:203460 )

• despite being present at E12.5 and E13.5, no mice are present at E14.5

cardiovascular system

abnormal liver vasculature morphology ( J:203460 )

• dilated

dilated liver sinusoidal space ( J:203460 )

• increased empty spaces (hepatic sinusoids) at E12.5; sinusoids are very dilated at E13.5

abnormal heart development ( J:203460 )

• increased ventricle volume at E12.5 and E13.5

abnormal atrioventricular cushion morphology ( J:203460 )

• immature inferior atrioventricular endocardial cushion at E12

abnormal interventricular septum morphology ( J:203460 )

• immature at E12.5 and E13.5 with a large canal between left and right ventricle

thin ventricular wall ( J:203460 )

nervous system

abnormal brain morphology ( J:203460 )

• compressed especially in the posterior portion

• area between the ventricles and cephalic mesenchyme tissue is reduced compared to in control mice

decreased brain size ( J:203460 )

• at E13.5

abnormal fourth ventricle morphology ( J:203460 )

• mostly closed

abnormal lateral ganglionic eminence morphology ( J:203460 )

• severe cell death with cavitation in the lateral and medial ganglionic eminences, localized below the forebrain cortex

abnormal medial ganglionic eminence morphology ( J:203460 )

• severe cell death with cavitation in the lateral and medial ganglionic eminences, localized below the forebrain cortex

liver/biliary system

abnormal liver vasculature morphology ( J:203460 )

• dilated

dilated liver sinusoidal space ( J:203460 )

• increased empty spaces (hepatic sinusoids) at E12.5; sinusoids are very dilated at E13.5

abnormal liver parenchyma morphology ( J:203460 )

• less densely packed

liver hypoplasia ( J:203460 )

• at E12.5

embryo

embryo phenotype ( J:203460 )

N • mice exhibit normal labyrinth layer structure and blood vessels of the labyrinth layer

embryonic growth retardation ( J:203460 )

• mild at E12.5

growth/size/body

embryonic growth retardation ( J:203460 )

• mild at E12.5

abnormal head morphology ( J:203460 )

• bulges sticking up from the middle of the head at E12.5 and more evident at E13.5

cellular

abnormal cell death ( J:203460 )

• severe cell death with cavitation in the lateral and medial ganglionic eminences, localized below the forebrain cortex

increased cell proliferation ( J:203460 )

• in the heart at E13.5 without an increase in apoptosis