Phenotypes Associated with This Genotype

Genotype
MGI:5006956

• Allelic Composition: Med23^snouty/Med23^snouty
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

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

Shortened frontonasal region in E9.5-10.5 Med23^snouty/Med23^snouty embryos

mortality/aging

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

• embryos die by E11

cardiovascular system

abnormal blood vessel morphology ( J:171522 )

• at E9.5-10.5, mutants display constricted capillaries or microvascular networks

craniofacial

small frontonasal prominence ( J:171522 )

• at E9.5, the lateral and medial fronotnasal mesenchyme is considerably reduced resulting in frontonasal shortening

absent second pharyngeal arch ( J:171522 )

• at E9.5, the second pharyngeal arch is occasionally absent

second pharyngeal arch hypoplasia ( J:171522 )

• at E9.5, the second pharyngeal arch is almost always hypoplastic

embryo

absent second pharyngeal arch ( J:171522 )

• at E9.5, the second pharyngeal arch is occasionally absent

second pharyngeal arch hypoplasia ( J:171522 )

• at E9.5, the second pharyngeal arch is almost always hypoplastic

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

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

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