Phenotypes Associated with This Genotype

Genotype
MGI:3654648

• Allelic Composition: Ubr1^tm1Avar/Ubr1^tm1Avar
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

digestive/alimentary system

exocrine pancreatic insufficiency ( J:105229 )

• chymotrypsin and elastase activities are lower in feces, indicating impaired pancreatic exocrine function, however observe no morphological differences in the pancreas

• pancreatic acini are about 100 times less responsive to secretagogue (cholecytoskinin) stimulation, indicating impaired stimulus-secretion coupling in the pancreas

endocrine/exocrine glands

abnormal pancreas physiology ( J:105229 )

• exhibit increased susceptibility to pancreatic injury (induced by cerulein to block secretion and induce acinar cell stress and experimental pancreatitis)

exocrine pancreatic insufficiency ( J:105229 )

• chymotrypsin and elastase activities are lower in feces, indicating impaired pancreatic exocrine function, however observe no morphological differences in the pancreas

• pancreatic acini are about 100 times less responsive to secretagogue (cholecytoskinin) stimulation, indicating impaired stimulus-secretion coupling in the pancreas

behavior/neurological

abnormal learning/memory/conditioning ( J:101662 )

• enhanced non spatial learning

• exhibit superior relearning, though equal first-day retention, on the Lashely III maze

enhanced passive avoidance behavior ( J:105229 )

• perform better in passive avoidance with 92% of mice not re-entering the dark compartment as opposed to 50% of wild-type, but only on the first day of testing, as show similar behavior to wild-type on day 2

abnormal discrimination learning ( J:101662 )

• acquire horizontal-vertical discrimination more quickly

abnormal spatial learning ( J:101662 )

• take longer and swim a greater distance to locate the hidden platform during an 8-week Morris water maze retention, indicating impaired spatial learning

decreased vertical activity ( J:105229 )

decreased locomotor activity ( J:101662 )

• exhibit less spontaneous activity in an open filed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Johanson-Blizzard syndrome		DOID:14694	OMIM:243800	J:105229