Phenotypes Associated with This Genotype

Genotype
MGI:2174973

• Allelic Composition: Neurod1^tm1Mjts/Neurod1^tm1Mjts
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:43010 )

• die 3-5 days after birth

growth/size/body

decreased body size ( J:43010 )

• smaller by 2 days after birth

digestive/alimentary system

abnormal pancreatic acinar cell morphology ( J:43010 )

• by 2 days of age, acinar cells lack the normal cellular polarity, with nuclei randomly distributed within the cell rather than in the basal region, overabundance of zymogen granules, and vacuolization characteristic of cellular degeneration

pancreatic acinar cell zymogen granule accumulation ( J:43010 )

abnormal intestinal mucosa morphology ( J:43010 )

abnormal intestinal enteroendocrine cell morphology ( J:43010 )

• secretin- and cholecystokinin-expressing enteroendocrine cells are absent in the intestine

homeostasis/metabolism

hyperglycemia ( J:43010 )

• seen at 2 days after birth

dehydration ( J:43010 )

• dehydrated by 2 days after birth

ketoaciduria ( J:43010 )

• observe ketonuria at P2

endocrine/exocrine glands

increased pancreas apoptosis ( J:43010 )

• pancreas shows an increase in the number of apoptotic cells with no differences in cell proliferation

abnormal pancreatic acinar cell morphology ( J:43010 )

• by 2 days of age, acinar cells lack the normal cellular polarity, with nuclei randomly distributed within the cell rather than in the basal region, overabundance of zymogen granules, and vacuolization characteristic of cellular degeneration

pancreatic acinar cell zymogen granule accumulation ( J:43010 )

decreased pancreatic alpha cell number ( J:43010 )

• newborns show a 40% reduction in the number of alpha cells

abnormal pancreatic beta cell morphology ( J:43010 )

• arrest in the expansion of the pancreatic beta-cell population occurring after E14.5 but prior to E17.5

decreased pancreatic beta cell number ( J:43010 )

• newborns show a 75% reduction in the number of beta cells

decreased pancreatic delta cell number ( J:43010 )

• newborns show a 20% reduction in the number of delta cells

absent pancreatic islets ( J:43010 )

• islets fail to develop at any stage of development in the pancreas

• endocrine cells form and aggregate as small clusters but fail to organize properly into mature islets

renal/urinary system

ketoaciduria ( J:43010 )

• observe ketonuria at P2

cellular

increased pancreas apoptosis ( J:43010 )

• pancreas shows an increase in the number of apoptotic cells with no differences in cell proliferation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
type 1 diabetes mellitus 7		DOID:0110746	OMIM:600321	J:43010