Mouse Genome Informatics
cn
    Gt(ROSA)26Sortm1(Kcnj11*V59M)Fmas/Gt(ROSA)26Sor+
Tg(Nes-cre)1Kln/0

involves: 129S4/SvJae * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice, especially females, are born at less than Mendelian frequency

growth/size
• trend towards lower body weight

behavior/neurological
• impaired balance control at 12 weeks of age
• take three times longer than controls to turn around on a thin rod suspended above the ground, and many fell off while attempting to do so
• fall off a rotating rod earlier than control mice at 12 weeks of age
• unable to hang as long from an inverted screen or a horizontal bar at 12 weeks of age
• more spontaneous activities than controls at 12 weeks of age
• stay significantly longer than controls in free-running wheels at 12 weeks of age
• run longer distance over a 23-hour period on a free-running wheel

nervous system
• more hyperpolarized resting membrane potential of cerebellar Purkinje cells in acute brain slices than in controls
• restored by tolbutamide, a specific inhibitor of KATP channels
• substantially lower action potential frequency of cerebellar Purkinje cells in acute brain slices in both cell-attached and whole-cell recordings
• restored by tolbutamide
• the ATP sensitivity of the native muscle ATP-sensitive potassium (KATP) channel is reduced compared with that of control mice in patch-clamp recordings of isolated muscle fibers

muscle
• unable to lift weights as effectively or to hang as long from an inverted screen or a horizontal bar at 12 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Diabetes Mellitus, Permanent Neonatal; PNDM 606176 J:162008