Phenotypes Associated with This Genotype

Genotype
MGI:5752734

• Allelic Composition: Myo5b^{tm1a(KOMP)Wtsi}/Myo5b^{tm1a(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Myo5b^{tm1a(KOMP)Wtsi}
• Cell Lines: EPD0526_3_A11

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

Ultrastructural defects in the intestinal epithelium of Myo5b^{tm1a(KOMP)Wtsi}/Myo5b^{tm1a(KOMP)Wtsi} E20 embryos

mortality/aging

perinatal lethality, complete penetrance ( J:229427 )

• mice die within the first 12 hours of being born

growth/size/body

decreased body weight ( J:229427 )

• newborns show reduced body weight

digestive/alimentary system

diarrhea ( J:229427 )

• mice show signs of diarrhea

abnormal intestinal epithelium morphology ( J:229427 )

• intestinal epithelium shows presence of microvillus inclusion bodies in the cytoplasm of absorptive cells at E20

abnormal enterocyte morphology ( J:229427 )

• intestinal enterocytes show characteristic cytoplasmic accumulation of periodic-acid Schiff staining observed in microvillus inclusion disease

• enterocytes show mislocalization of apical brush border proteins

abnormal small intestinal microvillus morphology ( J:229427 )

• apical surface of the intestinal enterocytes exhibit widespread microvilli atrophy and reduced packing with areas with few/absent microvilli and presence of microvilli in the lateral plasma membrane

homeostasis/metabolism

hypoglycemia ( J:229427 )

• newborns exhibit reduced blood glucose levels

integument

wrinkled skin ( J:229427 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
microvillus inclusion disease		DOID:0060775	OMIM:251850	J:229427