Phenotypes Associated with This Genotype

Genotype
MGI:4819394

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Kcnj11*V59M)Fmas}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:162008 )

• mice, especially females, are born at less than Mendelian frequency

growth/size/body

decreased body weight ( J:162008 )

• trend towards lower body weight

behavior/neurological

impaired balance ( J:162008 )

• 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

impaired coordination ( J:162008 )

• fall off a rotating rod earlier than control mice at 12 weeks of age

decreased grip strength ( J:162008 )

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

hyperactivity ( J:162008 )

• 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

abnormal nervous system electrophysiology ( J:162008 )

• 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

abnormal action potential ( J:162008 )

• substantially lower action potential frequency of cerebellar Purkinje cells in acute brain slices in both cell-attached and whole-cell recordings

• restored by tolbutamide

abnormal channel response ( J:162008 )

• 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

muscle weakness ( J:162008 )

• 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		DO ID	OMIM ID(s)	Ref(s)
permanent neonatal diabetes mellitus		DOID:0060639	OMIM:606176	J:162008