Genetic interactions and modifier genes in Hirschsprung's disease

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Dec 7, 2011 (publication date) through Jan 31, 2025

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Dec 7, 2011; 17(45): 4937-4944
Published online Dec 7, 2011. doi: 10.3748/wjg.v17.i45.4937

Table 2 Phenotypes of mouse models of enteric nervous system defects

	Wild-type	Colonic aganglionosis	Total intestinal aganglionosis	Hypoganglionosis

Ret	+/-	51/51	-/-	C620R/+
	9/9	S697A/S697A	Y1062F/Y1062F
	Y162F/+		C620R/C620R
Ednb	sl/+	sl/sl
Ednb	sl/+	Ednrb^tm1Ywa/Ednrb^tm1Ywa
Et3	ls/+	ls/ls
Et3	ls/+	Et3^tm1Ywa/ Et3^tm1Ywa
Sox10	Dom/+ (~80%)	Dom/+ (~20%)	Dom/Dom
Sox10	LacZ/+ (~80%)	LacZ/+ (~20%)	LacZ/LacZ
Interactions		Ret^+/-; Ednrb^s/s	Ret^51/51; Et3l^s/ls
		Ret^51/+; Et3l^s/ls	Sox10^Dom/+; Et3l^s/ls
			Sox10^Dom/+; Edrnb^sl/sl
Other genotypes		Sall4^-/-	Gdnf^-/-	Gdnf^+/-
		B1Intergrin^-/-	Gfra1^-/-	Hlx1^-/-
		Ece1^-/-	Phox2b^-/-
			Pax3^-/-

Citation: Wallace AS, Anderson RB. Genetic interactions and modifier genes in Hirschsprung's disease. World J Gastroenterol 2011; 17(45): 4937-4944
URL: https://www.wjgnet.com/1007-9327/full/v17/i45/4937.htm
DOI: https://dx.doi.org/10.3748/wjg.v17.i45.4937