Phenotypes associated with this allele

• Allele Symbol: Nuak1^tm1Sia
• Allele Name: targeted mutation 1, Shinichi Aizawa
• Allele ID: MGI:3770654
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nuak1^tm1Sia/Nuak1^tm1Sia	involves: C57BL/6NCrlj * CBA/JNCrlj	MGI:3770655
cx2	Nuak1^tm1Sia/Nuak1^tm1Sia Nuak2^tm1Sia/Nuak2^tm1Sia	involves: C57BL/6NCrlj * CBA/JNCrlj	MGI:5431633

Genotype
MGI:3770655

hm1

• Allelic Composition: Nuak1^tm1Sia/Nuak1^tm1Sia
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

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

mortality/aging

perinatal lethality, complete penetrance ( J:110717 )

• no live-born mice are produced

nervous system

nervous system phenotype ( J:110717 )

N • despite expression in the brain the development of the brain is normal

growth/size/body

herniated abdominal wall ( J:110717 )

• at E12.5, while mice display normal abdomens they also exhibit physiological hernia

omphalocele ( J:110717 )

• omphalocele is apparent at E14.5 and persists into E18.5

Genotype
MGI:5431633

cx2

• Allelic Composition: Nuak1^tm1Sia/Nuak1^tm1Sia; Nuak2^tm1Sia/Nuak2^tm1Sia
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

nervous system

abnormal neural plate morphology ( J:185597 )

• the median hinge point forms but the paired dorsolateral hinge points fail to form in the lower spine

• in the more caudal the neural plate is scarcely bent

• inefficient neural plate thickening

abnormal embryonic neuroepithelium morphology ( J:185597 )

• failure of apical constriction after the 5 somite stage

• poor development of stable microtubules

• inefficient apical constriction and apico-basal elongation of neuroepithelial cells at the cranial layer

spina bifida ( J:185597 )

• in all embryos

• neither closure 2 nor 3 took place; however, closure 1 takes place and spreads caudally but not rostrally

wavy neural tube ( J:185597 )

• undulated in the closed section

exencephaly ( J:185597 )

• in all embryos

vision/eye

abnormal retina pigment epithelium morphology ( J:185597 )

• overgrowth of the retinal pigment epithelium

abnormal optic fissure closure ( J:185597 )

• failure of optic fissure closure

abnormal retina neuronal layer morphology ( J:185597 )

• overgrowth of the neural retina

craniofacial

facial cleft ( J:185597 )

• in all embryos

growth/size/body

facial cleft ( J:185597 )

• in all embryos

abnormal body wall morphology ( J:185597 )

• body wall defects similar to those in Nuak1^tm1Sia single homozygotes

pigmentation

abnormal retina pigment epithelium morphology ( J:185597 )

• overgrowth of the retinal pigment epithelium

embryo

abnormal neural plate morphology ( J:185597 )

• the median hinge point forms but the paired dorsolateral hinge points fail to form in the lower spine

• in the more caudal the neural plate is scarcely bent

• inefficient neural plate thickening

abnormal embryonic neuroepithelium morphology ( J:185597 )

• failure of apical constriction after the 5 somite stage

• poor development of stable microtubules

• inefficient apical constriction and apico-basal elongation of neuroepithelial cells at the cranial layer

spina bifida ( J:185597 )

• in all embryos

• neither closure 2 nor 3 took place; however, closure 1 takes place and spreads caudally but not rostrally

wavy neural tube ( J:185597 )

• undulated in the closed section