Phenotypes associated with this allele

• Allele Symbol: Kdr^orv
• Allele Name: orvieto
• Allele ID: MGI:5004965
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kdr^orv/Kdr^orv	involves: 129S1/Sv * C57BL/6 * FVB/NJ	MGI:5006953

Genotype
MGI:5006953

hm1

• Allelic Composition: Kdr^orv/Kdr^orv
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

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

Absence of blood cells and vasculature in E9.5-10.5 Kdr^orv/Kdr^orv embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:171522 )

• embryos die by E11

cardiovascular system

abnormal vasculogenesis ( J:171522 )

• form no blood vessels; PECAM1 immunostaining revealed the total absence of endothelial cells, primary vessels and secondary capillaries in E8.5-10.0 embryos

craniofacial

abnormal mandibular prominence morphology ( J:171522 )

• abnormal pharyngeal hinge morphology; the mandibular prominence is reduced in size, particularly at the narrow proximal end, with the suggestion that the mandibular and maxillary prominences are separated

absent fourth pharyngeal arch ( J:171522 )

• agenesis of the fourth pharyngeal arch

abnormal second pharyngeal arch morphology ( J:171522 )

• at E8.5-9.5, exhibit a failure of cranial neural crest cell colonization of the second pharyngeal arch

absent third pharyngeal arch ( J:171522 )

• agenesis of the third pharyngeal arch

embryo

abnormal cranial neural crest cell migration ( J:171522 )

• at E8.5-9.5, rhombomere 3-5 derived neural crest cells failed to migrate beyond the proximal extent of the second pharyngeal arch, and caudal to the otic vesicle there is an apparent loss of migrating neural crest cells

absent fourth pharyngeal arch ( J:171522 )

• agenesis of the fourth pharyngeal arch

abnormal second pharyngeal arch morphology ( J:171522 )

• at E8.5-9.5, exhibit a failure of cranial neural crest cell colonization of the second pharyngeal arch

absent third pharyngeal arch ( J:171522 )

• agenesis of the third pharyngeal arch

decreased embryo size ( J:171522 )

• at E9.5, mutant embryos are one half to two-thirds the size of control littermates

impaired cranial neural crest cell differentiation ( J:171522 )

• Sox10 positive neural crest cells are observed in the cranial territory prior to ganglia maturation in mutants suggesting that defects occur at the level of neural crest cell differentiation

failure of chorioallantoic fusion ( J:171522 )

• failure in chorio-allantoic fusion

growth/size/body

decreased embryo size ( J:171522 )

• at E9.5, mutant embryos are one half to two-thirds the size of control littermates

nervous system

abnormal nervous system development ( J:171522 )

• at E10.5, mutants exhibit only rudimentary neuronal differentiation within the cranial ganglia and a complete lack of neuronal differentiation within the midbrain

• at E10.5, there is little evidence of neuronal differentiation caudal to the trigeminal ganglion and no evidence of any axonal branching throughout the cranial region

• at E10.5, the midbrain neuronal plexus is conspicuously absent in orvieto mutants

impaired cranial neural crest cell differentiation ( J:171522 )

• Sox10 positive neural crest cells are observed in the cranial territory prior to ganglia maturation in mutants suggesting that defects occur at the level of neural crest cell differentiation

abnormal trigeminal ganglion morphology ( J:171522 )

• E10.5 mutants exhibit a pattern of a single domain of neurofilament or beta-tubulin staining localized to the proximal end of the first pharyngeal arch, probably representing a rudimentary trigeminal ganglion

cellular

abnormal cranial neural crest cell migration ( J:171522 )

• at E8.5-9.5, rhombomere 3-5 derived neural crest cells failed to migrate beyond the proximal extent of the second pharyngeal arch, and caudal to the otic vesicle there is an apparent loss of migrating neural crest cells