Phenotypes associated with this allele

• Allele Symbol: Pkn2^{tm1a(KOMP)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4363870
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkn2^tm1a(KOMP)Wtsi/Pkn2^tm1a(KOMP)Wtsi	involves: C57BL/6N	MGI:5912008
cx2	Pkn1^tm1Ajmc/Pkn1^tm1Ajmc Pkn2^tm1a(KOMP)Wtsi/Pkn2^+ Pkn3^tm1Ajmc/Pkn3^tm1Ajmc	involves: 129P2/OlaHsd * C57BL/6N * C57BL/6NTac	MGI:5912007

Genotype
MGI:5912008

hm1

• Allelic Composition: Pkn2^{tm1a(KOMP)Wtsi}/Pkn2^{tm1a(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:229595 )

• die at E10

growth/size/body

abnormal head development ( J:229595 )

• lack of head development at E9.5

embryo

abnormal vitelline vasculature morphology ( J:229595 )

absent vitelline blood vessels ( J:229595 )

disorganized yolk sac vascular plexus ( J:229595 )

• immature vascular plexus

abnormal neural crest cell migration ( J:229595 )

• cells fail to migrate away from the neuroendothelium

• however, cells do delaminate

absent pharyngeal arches ( J:229595 )

• lack of branchial arch formation

abnormal developmental patterning ( J:229595 )

abnormal embryo turning ( J:229595 )

• fail to undergo axial turning

abnormal rostral-caudal body axis extension ( J:229595 )

• compression of somites at E9.5 indicating impaired elongation

abnormal germ layer morphology ( J:229595 )

• separation of endodermal and mesodermal layers

abnormal mesenchyme morphology ( J:229595 )

• lack of branchial arch formation and head development implies a lack of mesenchymal expansion

abnormal neural fold formation ( J:229595 )

• the neural groove is often absent

abnormal neural tube morphology ( J:229595 )

open neural tube ( J:229595 )

• open to varying degrees in all embryos

• the prospective hind-brain neural tube is always open, often with no discernible neural groove

craniorachischisis ( J:229595 )

• in some embryos

abnormal somite development ( J:229595 )

• compressed somites at E9.5

cellular

abnormal neural crest cell migration ( J:229595 )

• cells fail to migrate away from the neuroendothelium

• however, cells do delaminate

abnormal fibroblast proliferation ( J:229595 )

• MEFs fail to proliferate

craniofacial

absent pharyngeal arches ( J:229595 )

• lack of branchial arch formation

cardiovascular system

abnormal vascular development ( J:229595 )

• collapsed major vessels and sparse peripheral vasculature

abnormal vascular plexus formation ( J:229595 )

• disorganized endothelial network throughout the mesenchyme

abnormal vitelline vasculature morphology ( J:229595 )

absent vitelline blood vessels ( J:229595 )

disorganized yolk sac vascular plexus ( J:229595 )

• immature vascular plexus

delayed heart looping ( J:229595 )

pericardial edema ( J:229595 )

homeostasis/metabolism

pericardial edema ( J:229595 )

nervous system

abnormal neural tube morphology ( J:229595 )

open neural tube ( J:229595 )

• open to varying degrees in all embryos

• the prospective hind-brain neural tube is always open, often with no discernible neural groove

craniorachischisis ( J:229595 )

• in some embryos

Genotype
MGI:5912007

cx2

• Allelic Composition: Pkn1^tm1Ajmc/Pkn1^tm1Ajmc; Pkn2^{tm1a(KOMP)Wtsi}/Pkn2⁺; Pkn3^tm1Ajmc/Pkn3^tm1Ajmc
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6N * C57BL/6NTac

normal phenotype

no abnormal phenotype detected ( J:229595 )

• viable and fertile with no overt phenotype