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Phenotypes Associated with This Genotype
Genotype
MGI:5752734
Allelic
Composition
Myo5btm1a(KOMP)Wtsi/Myo5btm1a(KOMP)Wtsi
Genetic
Background
C57BL/6N-Myo5btm1a(KOMP)Wtsi
Cell Lines EPD0526_3_A11
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo5btm1a(KOMP)Wtsi mutation (1 available); any Myo5b mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Ultrastructural defects in the intestinal epithelium of Myo5btm1a(KOMP)Wtsi/Myo5btm1a(KOMP)Wtsi E20 embryos

mortality/aging
• mice die within the first 12 hours of being born

growth/size/body
• newborns show reduced body weight

digestive/alimentary system
• intestinal epithelium shows presence of microvillus inclusion bodies in the cytoplasm of absorptive cells at E20
• intestinal enterocytes show characteristic cytoplasmic accumulation of periodic-acid Schiff staining observed in microvillus inclusion disease
• enterocytes show mislocalization of apical brush border proteins
• 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
• mice show signs of diarrhea

homeostasis/metabolism
• newborns exhibit reduced blood glucose levels

integument

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/03/2020
MGI 6.15
The Jackson Laboratory