Phenotypes associated with this allele

• Allele Symbol: Nckap1^khlo
• Allele Name: kahloista
• Allele ID: MGI:3578145
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nckap1^khlo/Nckap1^khlo	C3Fe.B6-Nckap1^khlo	MGI:3707257
hm2	Nckap1^khlo/Nckap1^khlo	involves: C3HeB/FeJ * C57BL/6J	MGI:3580845

Genotype
MGI:3707257

hm1

• Allelic Composition: Nckap1^khlo/Nckap1^khlo
• Genetic Background: C3Fe.B6-Nckap1^khlo

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:119028 )

• arrest at midgestation

embryo

abnormal anterior visceral endoderm cell migration ( J:119028 )

• anterior visceral endoderm (AVE) migration is defective as the AVE fails to reach its normal position at the embryonic/extraembryonic boundary in about 50% of embyos at E6.5 and E7.5

abnormal endoderm development ( J:119028 )

• definitive endoderm cells exit the primitive streak but do not spread anteriorly

abnormal mesoderm development ( J:119028 )

• isolated mesoderm cells are more compact than wild-type and have a collapsed network of stress fibers surrounding the nucleus, however epiblast cells are indistinguishable from wild-type

• mesodermal cells are surrounded by many short protrusions, have only small lamellipodia, and lack a clear polarity compared to wild-type cells, which are polarized and have large lamellipodia

rostral-caudal axis duplication ( J:119028 )

• about 1/4 of embryos show partial or complete duplications of the anteroposterior body axis

embryonic growth arrest ( J:119028 )

• arrest development prior to embryonic turning, exhibiting only 5-6 pairs of small somites compared to 8-12 in wild-type

abnormal paraxial mesoderm morphology ( J:119028 )

• in vivo, migration of the paraxial mesoderm, the last mesodermal cell type to transit the primitive streak, is disrupted

• however, lateral plate, cardiac, and axial mesoderm migrate to their normal positions

open neural tube ( J:119028 )

• closure of neural ectoderm into a tube fails

abnormal primitive streak morphology ( J:119028 )

• at E8.5, embryos accumulate a mass of disorganized mesenchymal cells at the primitive streak

• in culture, mesenchymal cells produced by primitive streaks fail to migrate and accumulate beneath the epiblast

abnormal primitive streak formation ( J:119028 )

• axis duplications are caused by the failure to restrict primitive streak formation to a single site

decreased somite size ( J:119028 )

• somites are small at E8.5

abnormal allantois morphology ( J:119028 )

• in 6 of 13 embryos, only the allantois is duplicated

failure of chorioallantoic fusion ( J:119028 )

• the allantois fails to fuse with the chorion

cardiovascular system

cardia bifida ( J:119028 )

• the two heart primordial fail to fuse to form a single heart tube

digestive/alimentary system

abnormal foregut morphology ( J:119028 )

• the foregut endoderm underlying the heart fails to fuse to form the anterior gut tube

nervous system

open neural tube ( J:119028 )

• closure of neural ectoderm into a tube fails

cellular

abnormal anterior visceral endoderm cell migration ( J:119028 )

• anterior visceral endoderm (AVE) migration is defective as the AVE fails to reach its normal position at the embryonic/extraembryonic boundary in about 50% of embyos at E6.5 and E7.5

Genotype
MGI:3580845

hm2

• Allelic Composition: Nckap1^khlo/Nckap1^khlo
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

mortality/aging

embryonic lethality between somite formation and embryo turning, complete penetrance ( J:98216 )

embryo

incomplete embryo turning ( J:98216 )

• arrest unturned

embryonic growth arrest ( J:98216 )

• arrest unturned

decreased somite size ( J:98216 )

• small somites