mortality/aging

complete postnatal lethality ( J:150077 )

• die within 5 days of birth

• survival may be extended up to P9 when separated from wild-type and heterozygous littermates

homeostasis/metabolism

increased circulating glucose level ( J:150077 )

• at P0, P1, and P7

impaired glucose tolerance ( J:150077 )

• glucose intolerant

renal/urinary system

kidney cortex cysts ( J:150077 )

• at P7, tiny cysts can be seen in the nephrogenic zone of the cortex

polycystic kidney ( J:150077 )

• at P0, large cysts are seen in the intermediate area between the cortex and pelvis

• some cysts originate from Bowman's capsules

• at P7, cysts in the intermediate are increased in size and tiny cysts can be seen in the nephrogenic zone of the cortex

endocrine/exocrine glands

abnormal pancreatic islet morphology ( J:150077 )

decreased pancreatic alpha cell number ( J:150077 )

decreased pancreatic beta cell number ( J:150077 )

decreased pancreatic delta cell number ( J:150077 )

small pancreatic islets ( J:150077 )

abnormal pancreas physiology ( J:150077 )

• RT-PCR analysis indicates reduced expression of pancreatic hormones

decreased activity of thyroid ( J:150077 )

• histology suggests hypothyroidism

growth/size

postnatal growth retardation ( J:150077 )

• display severe ateliosis despite presence of milk in the stomach

Mouse Models of Human Disease		OMIM ID	Ref(s)
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism		610199	J:150077