Mouse Genome Informatics
hm1
    Ubr1tm1Avar/Ubr1tm1Avar
either: (involves: 129S/SvEv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
adipose tissue
• reduction in amount of adipose tissue

growth/size
• reduction in amount of adipose tissue
• lower body mass, with a 20% difference seen at birth, then increased to about 32% for males and about 26% for females at weaning, back to 20% at 4 months and decreased to about 12% at 1 year

homeostasis/metabolism
• plasma glucose level is 12% lower than in controls under normal conditions, is 21% lower after a 24-hour fast, and remains unchanged (20%) 24 hours after refeeding
• levels of total protein in plasma are lower

muscle
• decrease in skeletal muscle mass

behavior/neurological
• exhibit a slightly lower ability to stay on a rotating horizontal rod than controls


Mouse Genome Informatics
hm2
    Ubr1tm1Avar/Ubr1tm1Avar
involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
OMIM IDRef(s)
Johanson-Blizzard Syndrome; JBS 243800 J:105229


Mouse Genome Informatics
cx3
    Ntan1tm1Avar/Ntan1tm1Avar
Ubr1tm1Avar/Ubr1tm1Avar

involves: 129/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• weight is lower by about 20%


Mouse Genome Informatics
cx4
    Ubr1tm1Avar/Ubr1tm1Avar
Ubr2tm1Ytkw/Ubr2tm1Ytkw

involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Abnormal development of the central nervous system in Ubr1tm1Avar/Ubr1tm1Avar Ubr2tm1Ytkw/Ubr2tm1Ytkw embryos

mortality/aging

growth/size
• embryos are smaller at E10.5 but not at earlier stages

embryogenesis
• by E10.5, blood vessels in the yolk sac are thinner and less branched
• staining for Pecam-1 at E10.5 shows that growth, remodeling, and branching of both small and large vessels is impaired
• embryos are smaller at E10.5 but not at earlier stages
• neuroepithelium at E10.5 is composed of 3 layers (VZ, SVZ, and mantle) instead of two (VZ and mantle) as in wild-type
• neuroepithelium at E10.5 is thin, with greater severity in the forebrain than in the spinal cord
• neuroepithelial structures do not increase in thickness after E10.5, in contrast to control embryos
• neural tubes are normal at E10.5 but by E11.5 become kinked
• appears pale by E10.5 but not at earlier stages
• growth ceases at around E10.5

nervous system
• reduction in proliferation and precocious migration and differentiation of neural progenitor cells
• decrease in the levels of S-phase neural precursor cells throughout the anteroposterior axis at E10.5, indicating impaired proliferation in the ventricular zone (VZ)
• higher numbers of mitotic neural precursors are present in the VZ of the forebrain at E10.5 and the distribution of mitotic cells is disorganized
• many mitotic cells appear to be between the interphase and prophase (instead of prophase or prometaphase as in wild-type), suggesting an arrest
• neuroepithelium at E10.5 is composed of 3 layers (VZ, SVZ, and mantle) instead of two (VZ and mantle) as in wild-type
• neuroepithelium at E10.5 is thin, with greater severity in the forebrain than in the spinal cord
• neuroepithelial structures do not increase in thickness after E10.5, in contrast to control embryos
• neural tubes are normal at E10.5 but by E11.5 become kinked
• by E11.5, forebrain morphology is distorted, with serpentine, thin, often disjointed neuroepithelial layers of varying thickness
• exhibit increased amounts apoptosis throughout the neural tubes at E10.5

cardiovascular system
• larger vessels such as the intracranial artery are thin an poorly developed at E10.5
• by E10.5, blood vessels in the yolk sac are thinner and less branched
• staining for Pecam-1 at E10.5 shows that growth, remodeling, and branching of both small and large vessels is impaired
• exhibit a large space between the heart and pericardium at E10.5, consistent with the accumulation of pericardial fluid
• development of the atria and ventricles is arrested by E10.5
• development of the atria is arrested by E10.5
• interatrial septa formation is not observed by E10.5
• trabeculations are thinner and less abundant
• disorganization of the myocardial wall at E10.5
• development of the ventricles is arrested by E10.5
• variable levels of ventricular atrophy
• interventricular septa formation is not observed by E10.5
• seen by E10.5
• seen by E10.5
• develop local hemorrhages by E10.5 (but not at E9.5)

muscle
• trabeculations are thinner and less abundant

homeostasis/metabolism
• seen by E10.5

cellular
• reduction in proliferation and precocious migration and differentiation of neural progenitor cells
• decrease in the levels of S-phase neural precursor cells throughout the anteroposterior axis at E10.5, indicating impaired proliferation in the ventricular zone (VZ)
• higher numbers of mitotic neural precursors are present in the VZ of the forebrain at E10.5 and the distribution of mitotic cells is disorganized
• many mitotic cells appear to be between the interphase and prophase (instead of prophase or prometaphase as in wild-type), suggesting an arrest