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Phenotypes Associated with This Genotype
Genotype
MGI:3654648
Allelic
Composition
Ubr1tm1Avar/Ubr1tm1Avar
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ubr1tm1Avar mutation (0 available); any Ubr1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• 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
• exhibit increased susceptibility to pancreatic injury (induced by cerulein to block secretion and induce acinar cell stress and experimental pancreatitis)
• 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
• enhanced non spatial learning
• exhibit superior relearning, though equal first-day retention, on the Lashely III maze
• 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
• acquire horizontal-vertical discrimination more quickly
• take longer and swim a greater distance to locate the hidden platform during an 8-week Morris water maze retention, indicating impaired spatial learning
• 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


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
02/18/2020
MGI 6.14
The Jackson Laboratory