Phenotypes associated with this allele

• Allele Symbol: Furin^tm1Ajmr
• Allele Name: targeted mutation 1, Anton JM Roebroek
• Allele ID: MGI:1857604
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Furin^tm1Ajmr/Furin^tm1Ajmr	involves: 129P2/OlaHsd * C57BL/6	MGI:3054439
cx2	Furin^tm1Ajmr/Furin^tm1Ajmr Pcsk6^tm1Rob/Pcsk6^tm1Rob	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3054403

Genotype
MGI:3054439

hm1

• Allelic Composition: Furin^tm1Ajmr/Furin^tm1Ajmr
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:50582 )

• embryos die between E10.5 and E11.5 probably due to hemodynamic insufficiency resulting from severe ventral closure defects

cardiovascular system

abnormal cardinal vein morphology ( J:50582 )

• the cardinal veins are significantly enlarged and engorged with nucleated red blood cells

absent vitelline blood vessels ( J:50582 )

• observed by E10.5

abnormal heart development ( J:50582 )

• the cardiogenic mesoderm either fails to fuse at the ventral midline, leading to cardia bifida, or forms a single linear tube that fails to undergo looping morphogenesis

failure of heart looping ( J:50582 )

• single linear tube fails to undergo looping morphogenesis

abnormal heart tube morphology ( J:50582 )

• in some mutants, heart tube is abnormally short and forms a single linear tube at E9.5

cardia bifida ( J:50582 )

• in the majority of mutants, mesoderm does not fuse at ventral midline, resulting in cardia bifida between E9.5 and E10.5

embryo

abnormal developmental patterning ( J:50582 )

abnormal dorsal-ventral axis patterning ( J:50582 )

• severe disorganization of all ventral tissues between E9.5 and E10.5

• gut endoderm and body wall fusion at ventral midline is delayed or fails

failure of initiation of embryo turning ( J:50582 )

• embryos fail to undergo axial rotation

short rostral-caudal axis ( J:50582 )

• at E9.5, the anteroposterior body axis is frequently shortened in the trunk and tail region

decreased embryo size ( J:50582 )

• by E9.5, embryos are 30% smaller than wild-type

abnormal neural plate morphology ( J:50582 )

• kinking observed at E9.5

kinked neural tube ( J:50582 )

• kinking observed at E9.5

abnormal somite shape ( J:50582 )

• somites are abnormally compact at E9.5

decreased somite size ( J:50582 )

• somites are small at E9.5

abnormal extraembryonic tissue morphology ( J:50582 )

absent vitelline blood vessels ( J:50582 )

• observed by E10.5

abnormal allantois morphology ( J:50582 )

• by E9.5, the allantois becomes highly vacuolated and is displaced laterally as opposed to projecting towards the chorion

abnormal visceral yolk sac blood island morphology ( J:50582 )

• fetal red blood cells are pooled in a single patch

• blood islands visible by E9.5 but numbers are reduced

excessive folding of visceral yolk sac ( J:50582 )

• at E10.5 endodermal surface is ruffled in appearance

failure of chorioallantoic fusion ( J:50582 )

• the allantois fails to fuse with the chorion

growth/size/body

decreased embryo size ( J:50582 )

• by E9.5, embryos are 30% smaller than wild-type

abnormal ventral body wall morphology ( J:50582 )

• gut endoderm and body wall fusion at ventral midline is delayed or fails

nervous system

abnormal neural plate morphology ( J:50582 )

• kinking observed at E9.5

kinked neural tube ( J:50582 )

• kinking observed at E9.5

exencephaly ( J:50582 )

• observed at E9.5

digestive/alimentary system

absent midgut ( J:50582 )

• midgut does not develop

Genotype
MGI:3054403

cx2

• Allelic Composition: Furin^tm1Ajmr/Furin^tm1Ajmr; Pcsk6^tm1Rob/Pcsk6^tm1Rob
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

embryonic lethality between implantation and placentation, complete penetrance ( J:81247 )

embryo

abnormal rostral-caudal axis patterning ( J:81247 )

decreased embryo size ( J:81247 )

• by E7.5, mutant embryos are 30-50% smaller than wild-type

abnormal embryonic tissue morphology ( J:81247 )

• delayed cavitation to E6.5

small embryonic epiblast ( J:81247 )

• epiblast and extraembryonic ectoderm are shortened by E6.5

abnormal primitive streak formation ( J:81247 )

• by E7.5, a disorganized, rudimentary primitive streak is shown to bulge into the amniotic cavity

abnormal primitive streak elongation ( J:81247 )

• the proximal epiblast region forms a disorganized primitive streak that fails to elongate

absent allantois ( J:81247 )

• at E7.5

absent amnion ( J:81247 )

• at E7.5

absent chorion ( J:81247 )

• at E7.5

abnormal extraembryonic ectoderm morphology ( J:81247 )

• epiblast and extraembryonic ectoderm are shortened by E6.5

disorganized extraembryonic tissue ( J:81247 )

• failure to form chorion, allantois or amnion by E7.5

growth/size/body

decreased embryo size ( J:81247 )

• by E7.5, mutant embryos are 30-50% smaller than wild-type