Phenotypes Associated with This Genotype

Genotype
MGI:3603810

• Allelic Composition: Mib1^tm1Kong/Mib1^tm1Kong
• Genetic Background: either: B6.129P2-Mib1^tm1Kong or (involves: 129P2/OlaHsd * FVB/N)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:101173 )

• only dead or resorbed homozygous embryos are found at E11.5 - E12.5

embryo

absent second pharyngeal arch ( J:101173 )

• the second branchial arches are absent

caudal body truncation ( J:101173 )

• at E9.5 embryos are posteriorly truncated

embryonic growth retardation ( J:101173 )

• at E9.5 homozygous embryos are severely growth retarded

abnormal paraxial mesoderm morphology ( J:101173 )

• loss of mesenchyme cells is seen in transverse sections at E9.5

abnormal neural tube morphology ( J:101173 )

• the notochord is fused to the neural tube

kinked neural tube ( J:101173 )

• seen at E9.5

abnormal notochord morphology ( J:101173 )

• the notochord is fused to the neural tube

abnormal dorsal-ventral polarity of the somites ( J:101173 )

• at E8.5 expression data indicate that somatic polarity and oscillation are absent, with markers for the posterior half of each somite absent

fused somites ( J:101173 )

• somitogenesis is irregular with some somites fused

abnormal visceral yolk sac morphology ( J:101173 )

• the yolk sac appears blistered

abnormal vitelline vascular remodeling ( J:101173 )

• the initial vascular plexus forms but the reorganization into a network of large vessels does not occur

cardiovascular system

abnormal intersomitic vessel morphology ( J:101173 )

• intersomitic vessels are absent or when present (in the anterior part of the embryo) show an irregular ladder shape

absent intersomitic vessels ( J:101173 )

abnormal angiogenesis ( J:101173 )

abnormal dorsal aorta morphology ( J:101173 )

• the dorsal aorta is smaller, lacks expression of ephrin B2, and shows markedly reduced recruitment of smooth muscle cells

• the dorsal aorta and vessels in the yolk sac have decreased expression of arterial-specific markers

poor arterial differentiation ( J:101173 )

• the dorsal aorta and vessels in the yolk sac have decreased expression of arterial-specific markers

abnormal vascular regression ( J:101173 )

• vessels in the head are thin, truncated, and do not form a finely branched network

failure of heart looping ( J:101173 )

• heart looping does not occur

small heart ( J:101173 )

• at E9.5 the heart appears small and thin in transverse sections

distended pericardium ( J:101173 )

• the pericardial sac is balloon-like

abnormal blood circulation ( J:101173 )

• at E9.5 embryos lack circulation

nervous system

premature neuronal precursor differentiation ( J:101173 )

• at E9.0 - 9.5 most of the cells in the brain are positive for markers of early neurons and almost no cells are proliferating and at E9.5 - 9.75 the neurosphere forming cells are absent and many apoptotic cells are seen in the brai

abnormal neural tube morphology ( J:101173 )

• the notochord is fused to the neural tube

kinked neural tube ( J:101173 )

• seen at E9.5

craniofacial

absent second pharyngeal arch ( J:101173 )

• the second branchial arches are absent

growth/size/body

embryonic growth retardation ( J:101173 )

• at E9.5 homozygous embryos are severely growth retarded

cellular

abnormal vascular regression ( J:101173 )

• vessels in the head are thin, truncated, and do not form a finely branched network

premature neuronal precursor differentiation ( J:101173 )

• at E9.0 - 9.5 most of the cells in the brain are positive for markers of early neurons and almost no cells are proliferating and at E9.5 - 9.75 the neurosphere forming cells are absent and many apoptotic cells are seen in the brai