Phenotypes Associated with This Genotype

Genotype
MGI:3818604

• Allelic Composition: Atg16l1^{Gt(XR0164)Wtsi}/Atg16l1^{Gt(XR0164)Wtsi}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

digestive/alimentary system

abnormal Paneth cell morphology ( J:141419 )

• aberrant, disorganized granules as well as decreased granule numbers are observed in these mice

• virtually all Paneth cells have lysozyme localized throughout the cell instead of being discretely packaged within vesicles

• Paneth cells also have degenerating mitochondria, loss of granules and the frequent absence of apical microvilli

• adjacent crypt lumen often contains intact Paneth granules and cytoplasm, which is a phenomenon not observed in wild-type controls

homeostasis/metabolism

impaired autophagy ( J:141419 )

• autophagy by the ileal epithelium and thymocytes is severely reduced in these mice

cellular

impaired autophagy ( J:141419 )

• autophagy by the ileal epithelium and thymocytes is severely reduced in these mice

endocrine/exocrine glands

abnormal Paneth cell morphology ( J:141419 )

• aberrant, disorganized granules as well as decreased granule numbers are observed in these mice

• virtually all Paneth cells have lysozyme localized throughout the cell instead of being discretely packaged within vesicles

• Paneth cells also have degenerating mitochondria, loss of granules and the frequent absence of apical microvilli

• adjacent crypt lumen often contains intact Paneth granules and cytoplasm, which is a phenomenon not observed in wild-type controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
inflammatory bowel disease 10		DOID:0110885	OMIM:611081	J:141419