All Phenotypes cri MGI Mouse

mortality/aging

mortality/aging ( J:5277 )

premature death ( J:5277 )

• most mutants survive no longer than 3 months

behavior/neurological

abnormal behavior ( J:5277 )

abnormal liquid preference ( J:15349 )

• mutants have a preference for physiological saline over water

abnormal motor capabilities/coordination/movement ( J:5277 )

ataxia ( J:5277 )

• begins st 2.5-3 weeks of age

clonic seizures ( J:6110 )

• clonic seizures are expected for mice with a DBA/2J background but unlike normal siblings, mutants do not develop tonic seizures and die

• presumably the severe neurological defect prevents tonic seizures

nervous system

clonic seizures ( J:6110 )

• clonic seizures are expected for mice with a DBA/2J background but unlike normal siblings, mutants do not develop tonic seizures and die

• presumably the severe neurological defect prevents tonic seizures

abnormal nervous system morphology ( J:5277 )

abnormal spinal cord morphology ( J:5277 )

abnormal spinal cord white matter morphology ( J:5277 )

• light and EM microscopy show severe vacuolar degeneration

vision/eye

abnormal retina inner nuclear layer morphology ( J:5277 )

• light and EM microscopy reveal severe vacuolar degeneration

hematopoietic system

anemia ( J:5277 )

• visible as pallor at birth

• lessens with age but does not disappear

abnormal erythrocyte cell number ( J:5277 )

decreased erythrocyte cell number ( J:5277 )

decreased leukocyte cell number ( J:6327 )

decreased neutrophil cell number ( J:6327 )

• lung washings yield more neutrophils than lung washes from normal controls

• there is greater increase in neutrophils in mutants than in controls after exposure to Staphlococcus aureus aerosol

homeostasis/metabolism

abnormal homeostasis ( J:15349 )

abnormal circulating mineral level ( J:15349 )

abnormal circulating potassium level ( J:15349 )

decreased circulating potassium level ( J:15349 )

abnormal urine homeostasis ( J:15349 )

decreased urine potassium level ( J:15349 )

decreased urine sodium level ( J:15349 )

renal/urinary system

abnormal urine homeostasis ( J:15349 )

decreased urine potassium level ( J:15349 )

decreased urine sodium level ( J:15349 )

digestive/alimentary system

abnormal feces composition ( J:15349 )

• increased sodium concentration

abnormal parotid gland physiology ( J:9976 )

• elevation of sodium concentration in parotid gland secretions

endocrine/exocrine glands