Phenotypes Associated with This Genotype

Genotype
MGI:3579773

• Allelic Composition: Nkx3-2^tm1(cre)Tsa/Nkx3-2⁺; Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

digestive/alimentary system

abnormal digestive system development ( J:98520 )

• altered radial patterning and anterior-posterior axis patterning of the stomach

abnormal stomach morphology ( J:98520 )

• mesenchyme of the stomach was thickened at E16.5

• hind-stomach was expanded and exhibited a vacuolated epithelium, resembling the pyloric region, with numerous invaginations and a thickened and disorganized circular smooth muscle layer

small forestomach ( J:98520 )

• reduced size of fore-stomach as indicated by an anterior shift of the limiting ridge

abnormal forestomach-glandular stomach junction morphology ( J:98520 )

• an anterior shift of the limiting ridge is observed

abnormal stomach pyloric region morphology ( J:98520 )

• the pylorus exhibited a disorganized thickened circular smooth muscle layer, with an epithelium that resembled the epithelium of the duodenum and was devoid of vacuoles, unlike the highly vacuolated control

abnormal gastric parietal cell morphology ( J:98520 )

• number of parietal cells increased in the thickened epithelial layer at E18.5

abnormal stomach epithelium morphology ( J:98520 )

• thicker epithelium at E12.5, E13.5 and E18.5

• the fore-stomach epithelium did not show signs of stratification at E16.5 and resembled hind-stomach epithelium, indicating posteriorization of stomach

abnormal stomach glandular epithelium morphology ( J:98520 )

• thicker glandular epithelium at E16.5, however differentiation of this epithelium was unchanged

• exhibited more extensive invagination of the epithelium than in controls

abnormal stomach smooth muscle circular layer morphology ( J:98520 )

• the circular smooth muscle layer of the stomach was disorganized at E13.5, E14.5 and E15.5 and was thickened in both the fore-stomach and hind-stomach, suggesting that radial patterning of the stomach was perturbed

small stomach ( J:98520 )

• slightly smaller stomach at E12.5 than controls

nervous system

abnormal enteric neuron morphology ( J:98520 )

• expansion of enteric neurons in the stomach

muscle

abnormal stomach smooth muscle circular layer morphology ( J:98520 )

• the circular smooth muscle layer of the stomach was disorganized at E13.5, E14.5 and E15.5 and was thickened in both the fore-stomach and hind-stomach, suggesting that radial patterning of the stomach was perturbed

endocrine/exocrine glands

abnormal gastric parietal cell morphology ( J:98520 )

• number of parietal cells increased in the thickened epithelial layer at E18.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital diaphragmatic hernia		DOID:3827	OMIM:142340 OMIM:222400 OMIM:610187	J:103437