Phenotypes associated with this allele

• Allele Symbol: Ncstn^tm1Pcw
• Allele Name: targeted mutation 1, Philip C Wong
• Allele ID: MGI:2667524
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ncstn^tm1Pcw/Ncstn^tm1Pcw	involves: 129X1/SvJ * C57BL/6	MGI:2667525

Genotype
MGI:2667525

hm1

• Allelic Composition: Ncstn^tm1Pcw/Ncstn^tm1Pcw
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:83376 )

• no homozygous mutant embryos are recovered after E10.5

embryo

abnormal vitelline vasculature morphology ( J:83376 )

• at E10, homozygotes display abnormal vascular morphogenesis in the yolk sac

caudal body truncation ( J:83376 )

• at E9.5, homozygotes display defects in the development of caudal parts of the embryo

embryonic growth retardation ( J:83376 )

• at E9 and E9.5, homozygotes are severely growth retardated relative to heterozygous and wild-type littermates

abnormal neural tube morphology ( J:83376 )

• at E9.5, homozygotes display disorganization of the ventral neural tube

kinked neural tube ( J:83376 )

• at E8, homozuygotes exhibit a kinked neural tube

failure of somite differentiation ( J:83376 )

• at E8, homozygotes display failure of somite segmentation

• by E9.5, mutant embryos show disorganization of the trunk

cardiovascular system

abnormal vitelline vasculature morphology ( J:83376 )

• at E10, homozygotes display abnormal vascular morphogenesis in the yolk sac

abnormal heart development ( J:83376 )

• at E9.5, homozygotes display an underdeveloped heart

failure of heart looping ( J:83376 )

• at E9.5, homozygotes exhibit small unlooped hearts

small heart ( J:83376 )

• at E9.5, the heart is smaller than normal

distended pericardium ( J:83376 )

• at E9.5, homozygotes display distention of the pericardial sacs

nervous system

abnormal neural tube morphology ( J:83376 )

• at E9.5, homozygotes display disorganization of the ventral neural tube

kinked neural tube ( J:83376 )

• at E8, homozuygotes exhibit a kinked neural tube

growth/size/body

embryonic growth retardation ( J:83376 )

• at E9 and E9.5, homozygotes are severely growth retardated relative to heterozygous and wild-type littermates

cellular

abnormal cell physiology ( J:83376 )

• in vitro, secretion of beta-amyloid (Abeta) peptides is abolished in primary embryonic fibroblasts (MEFs) established from E9.5 homozygous mutant embryos

• failure to generate Abeta peptides is accompanied by destabilization of the presenilin/gamma-secretase complex and accumulation of beta-amyloid precursor protein (APP)-C terminal fragments

• cell surface reinternalization of APP is significantly delayed in mutant fibroblasts, indicating that increased accumulation of APP reflects defects in presenilin-dependent APP trafficking