Phenotypes Associated with This Genotype

Genotype
MGI:2169198

• Allelic Composition: Foxa2^tm1Jrt/Foxa2⁺; Gsc^tm1Bhr/Gsc^tm1Bhr
• Genetic Background: involves: 129 * C57BL/6 * CD-1

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:41809 )

• die around E11.5

embryo

abnormal pharyngeal arch morphology ( J:41809 )

• abnormal at E8.75

abnormal first pharyngeal arch morphology ( J:41809 )

• pyknotic cells are seen in the mesenchyme of the first branchial arches

• the first branchial arch arteries are either not visible or poorly formed

• epithelium of the first arch fails to fuse ventrally with the pharyngeal endoderm

abnormal first pharyngeal arch artery morphology ( J:41809 )

• the first branchial arch arteries are either not visible or poorly formed

small first pharyngeal arch ( J:41809 )

• at E9.5

• expression analysis indicates reduced populations of both mesodermal and neural crest cells

abnormal second pharyngeal arch morphology ( J:41809 )

• pyknotic cells are seen in the mesenchyme of the second branchial arches

small second pharyngeal arch ( J:41809 )

• at E9.5

• expression analysis indicates reduced populations of both mesodermal and neural crest cells

abnormal embryo development ( J:41809 )

• at E8.75 defects are seen in the anterior end of the embryo including the region of the heart; however, development posterior to the heart is normal

• variable severity of the defects at E9.0 - E9.5

abnormal dorsal-ventral axis patterning ( J:41809 )

• at E9.0 - E9.5 dorsal-ventral patterning of the forebrain is abnormal

• at E9.0 - E9.5 in severely affected embryos expression analysis indicates ventral expansion of dorsal cell fates in floor plate cells with resulting loss of ventral structures

• however, anterior-posterior patterning of the neural tube is unaffected

embryonic growth arrest ( J:41809 )

• arrest around the 20 - 25 somite stage

embryonic growth retardation ( J:41809 )

• at E9.0 - E9.5

abnormal neural tube morphology ( J:41809 )

• at E9.5 in severely affected embryos the floor and roof of the neural tube are in contact with each other at the diencephalic-mesencephalic junction

• at E9.0 - E9.5 in severely affected embryos expression analysis indicates ventral expansion of dorsal cell fates in floor plate cells with resulting loss of ventral structures

• however, anterior-posterior patterning of the neural tube is unaffected

decreased embryonic neuroepithelium thickness ( J:41809 )

• at E9.5 in less severely affected embryos thinning of the neuroepithelium is seen in the forebrain, hindbrain, and spinal cord

• reduction in neuroepithelium is most severe in the forebrain

abnormal notochord morphology ( J:41809 )

• in severely affected embryos notochord cells disappear from the rostral half of the embryo by E9.5

• however, in less severely affected embryos notochord cells are maintained

decreased somite size ( J:41809 )

• reduced in size at E9.0 - E9.5

cardiovascular system

abnormal dorsal aorta morphology ( J:41809 )

• at E9.5 the dorsal aorta is elongated, enlarged, or disorganized

abnormal first pharyngeal arch artery morphology ( J:41809 )

• the first branchial arch arteries are either not visible or poorly formed

abnormal anterior cardinal vein morphology ( J:41809 )

• greatly enlarged anterior cardinal veins at E9.5

abnormal heart development ( J:41809 )

• by E9.5, the dorsal mesocardium fails to form resulting in connection of the heart to the gut

abnormal heart looping ( J:41809 )

• defects in heart looping are seen at E8.75

• at E9.5 the heart is a straight or S-shaped tube at the midline

absent dorsal mesocardium ( J:41809 )

• the dorsal mesocardium fails to form

vision/eye

abnormal optic vesicle formation ( J:41809 )

• smaller at E9.5 in less severely affected embryos

absent optic vesicle ( J:41809 )

• at E9.5 in more severely affected embryos the optic vesicle is lost as a result of lack of maintenance as optic vesicles are present at E8.75

nervous system

abnormal neural tube morphology ( J:41809 )

• at E9.5 in severely affected embryos the floor and roof of the neural tube are in contact with each other at the diencephalic-mesencephalic junction

• at E9.0 - E9.5 in severely affected embryos expression analysis indicates ventral expansion of dorsal cell fates in floor plate cells with resulting loss of ventral structures

• however, anterior-posterior patterning of the neural tube is unaffected

decreased embryonic neuroepithelium thickness ( J:41809 )

• at E9.5 in less severely affected embryos thinning of the neuroepithelium is seen in the forebrain, hindbrain, and spinal cord

• reduction in neuroepithelium is most severe in the forebrain

abnormal brain morphology ( J:41809 )

abnormal forebrain development ( J:41809 )

• dorsal-ventral patterning is abnormal

decreased forebrain size ( J:41809 )

• dramatically reduced at E8.75

decreased hindbrain size ( J:41809 )

• reduced in size at E9.0 - E9.5

decreased spinal cord size ( J:41809 )

• at E9.0 - E9.5

respiratory system

abnormal pharynx morphology ( J:41809 )

• smaller and abnormally shaped

small pharynx ( J:41809 )

growth/size/body

embryonic growth retardation ( J:41809 )

• at E9.0 - E9.5

craniofacial

abnormal pharyngeal arch morphology ( J:41809 )

• abnormal at E8.75

abnormal first pharyngeal arch morphology ( J:41809 )

• pyknotic cells are seen in the mesenchyme of the first branchial arches

• the first branchial arch arteries are either not visible or poorly formed

• epithelium of the first arch fails to fuse ventrally with the pharyngeal endoderm

abnormal first pharyngeal arch artery morphology ( J:41809 )

• the first branchial arch arteries are either not visible or poorly formed

small first pharyngeal arch ( J:41809 )

• at E9.5

• expression analysis indicates reduced populations of both mesodermal and neural crest cells

abnormal second pharyngeal arch morphology ( J:41809 )

• pyknotic cells are seen in the mesenchyme of the second branchial arches

small second pharyngeal arch ( J:41809 )

• at E9.5

• expression analysis indicates reduced populations of both mesodermal and neural crest cells