behavior/neurological phenotype

• abnormal behavioral response to amphetamine
  • following an amphetamine challenge, a significant increase in the locomotor activity is seen in amphetamine pre-treated mutants compared to amphetamine pre-treated wild-type mice
  (MGI Ref ID J:143912)
  • mice exhibit a smaller increase in locomotor activity following acute amphetamine treatment compared to wild-type mice
  (MGI Ref ID J:143912)

• enhanced cued conditioning behavior
  • mutants exhibit increased freezing to an auditory tone compared to wild-type controls, suggesting enhanced amygdala-related fear memory
  (MGI Ref ID J:143912)
  • Normal - however, contextual memory appears to be intact
  (MGI Ref ID J:143912)

• hypoalgesia
  • mutants take more time in removing their paw from a high intensity beam indicating less sensitivity to thermal nociception
  (MGI Ref ID J:143912)

• abnormal short term object recognition memory
  • after 5 min of retention interval, mutants spend less time exploring a new object compared to controls indicating impaired short-term object recognition memory
  (MGI Ref ID J:143912)

• abnormal habituation to a new environment
  • mutants do not show a decrease in locomotor activity from day 1 to day 7 in a novel environment, indicating lack of habituation to the environment that is seen in wild-type mice
  (MGI Ref ID J:143912)

integument phenotype

• hypoalgesia
  • mutants take more time in removing their paw from a high intensity beam indicating less sensitivity to thermal nociception
  (MGI Ref ID J:143912)

• diluted coat color
  (MGI Ref ID J:14267)

pigmentation phenotype

• decreased eye pigmentation
  • pink eyes
  (MGI Ref ID J:14267)

• diluted coat color
  (MGI Ref ID J:14267)

vision/eye phenotype

• decreased eye pigmentation
  • pink eyes
  (MGI Ref ID J:14267)

homeostasis/metabolism phenotype

• increased bleeding time
  (MGI Ref ID J:14267)

hematopoietic system phenotype

• abnormal platelet physiology
  • platelets have an abnormal uptake and flashing of mepacrine dye
  (MGI Ref ID J:85123)

• decreased platelet dense granule number
  • platelet dense granules are reduced in number
  (MGI Ref ID J:1958)

• decreased platelet serotonin level
  • platelet serotonin levels are low although ATP dependent acidification activity of platelet organelles appears normal
  (MGI Ref ID J:85123)

• thrombocytopenia
  • thrombin-stimulated platelets is depressed 2- and 3-fold
  (MGI Ref ID J:1958)

• decreased platelet aggregation
  • platelets have a reduced rate of collagen-induced aggregation
  (MGI Ref ID J:85123)

integument phenotype

• diluted coat color
  (MGI Ref ID J:1958)

mammalian phenotype

• behavior/neurological phenotype
  • Normal - preliminary tests of mice, including prepulse inhibition tests identified no behavioral abnormalities
  (MGI Ref ID J:85123)

• muscle phenotype
  • Normal - mice have no obvious muscle abnormalities
  (MGI Ref ID J:85123)

nervous system phenotype

• decreased platelet serotonin level
  • platelet serotonin levels are low although ATP dependent acidification activity of platelet organelles appears normal
  (MGI Ref ID J:85123)

pigmentation phenotype

• abnormal choroid melanin granule morphology
  • mice had fewer melanosomes in the choroids
  (MGI Ref ID J:85123)

• abnormal eye pigmentation
  • mice have diluted pigmentation in eyes
  (MGI Ref ID J:1958)

• diluted coat color
  (MGI Ref ID J:1958)

• abnormal retinal pigment epithelium morphology
  • mice had fewer melanosomes in the retinal pigment epithelium
  (MGI Ref ID J:85123)

renal/urinary system phenotype

• abnormal kidney physiology
  • secretion of lysosomal enzymes from kidney is depressed 2- and 3-fold
  (MGI Ref ID J:1958)
  • ceroid pigment is present in the kidney
  (MGI Ref ID J:1958)

vision/eye phenotype

• abnormal retinal pigment epithelium morphology
  • mice had fewer melanosomes in the retinal pigment epithelium
  (MGI Ref ID J:85123)

• abnormal choroid melanin granule morphology
  • mice had fewer melanosomes in the choroids
  (MGI Ref ID J:85123)

• abnormal optic choroid morphology
  • choroids melanosomes were generally smaller and irregular
  (MGI Ref ID J:85123)

• abnormal eye pigmentation
  • mice have diluted pigmentation in eyes
  (MGI Ref ID J:1958)

homeostasis/metabolism phenotype

• abnormal platelet physiology
  • platelets have an abnormal uptake and flashing of mepacrine dye
  (MGI Ref ID J:85123)

• increased bleeding time
  • mice have a prolonged bleeding time
  (MGI Ref ID J:1958)

• decreased platelet serotonin level
  • platelet serotonin levels are low although ATP dependent acidification activity of platelet organelles appears normal
  (MGI Ref ID J:85123)

• abnormal blood coagulation
  • mice have a prolonged bleeding time mice have a prolonged bleeding time mice have a prolonged bleeding time mice have a prolonged bleeding time mice have a prolonged bleeding time mice have a prolonged bleeding time
  (MGI Ref ID J:1958)

• decreased platelet aggregation
  • platelets have a reduced rate of collagen-induced aggregation
  (MGI Ref ID J:85123)

behavior/neurological phenotype

• hypoalgesia
  • mutants take more time in removing their paw from a high intensity beam indicating less sensitivity to thermal nociception
  (MGI Ref ID J:143912)

• abnormal short term object recognition memory
  • after 5 min of retention interval, mutants spend less time exploring a new object compared to controls indicating impaired short-term object recognition memory
  (MGI Ref ID J:143912)

integument phenotype

• hypoalgesia
  • mutants take more time in removing their paw from a high intensity beam indicating less sensitivity to thermal nociception
  (MGI Ref ID J:143912)

mammalian phenotype

• homeostasis/metabolism phenotype
  • Normal - corticosterone secretion in feces under both light-dark conditions and constant light conditions is similar to wild-type
  (MGI Ref ID J:223954)

nervous system phenotype

• decreased prepulse inhibition
  • cits, however, it is still decreased compared to wild-type mice
  (MGI Ref ID J:223954)
  • mice exhibit a deficit in prepulse inhibition under constant light conditions which is sustained even after mice are put in normal light-dark conditions; a light-dark exposure of 3 weeks after constant light partially reverses the prepulse inhibition deficits, however, it is still decreased compared to wild-type mice
  (MGI Ref ID J:223954)

behavior/neurological phenotype

• abnormal circadian behavior
  • ility is most pronounced during constant light, indicating that circadian clock is more sensitive to the effects of constant light
  (MGI Ref ID J:223954)
  • circadian rhythms are mainly normal under light-dark conditions or in constant darkness, however mice show longer free-running period under constant light and the subjective day/subjective night activity ratio is almost 3-times higher than in wild-type mice
  (MGI Ref ID J:223954)
  • ce
  (MGI Ref ID J:223954)
  • the cycle-to-cycle variability of activity onsets during 12 hour-light:12 hour-dark (light-dark) condition, constant light, or constant darkness is higher than in wild-type mice, indicating that precision of locomotor activity rhythms are enhanced; variability is most pronounced during constant light, indicating that circadian clock is more sensitive to the effects of constant light
  (MGI Ref ID J:223954)

• decreased anxiety-related response
  • in the elevated plus maze, mutants are more resistant to anxiety-promoting effects of constant light than wild-type mice; lighting conditions do not affect behavior of mutants in the elevated plus maze like they do for wild-type mice which spend less time in the open arms after the constant light condition
  (MGI Ref ID J:223954)
  • in the open arms after the constant light condition
  (MGI Ref ID J:223954)

• hyperactivity
  • mutants show comparable locomotor activity in the initial light-dark condition, but show an increase in total locomotor activity following exposure to constant light conditions, then a decrease in activity when exposed to the second light-dark condition that is still higher than seen in wild-type mice
  (MGI Ref ID J:223954)
  • hat is still higher than seen in wild-type mice
  (MGI Ref ID J:223954)

• abnormal operant conditioning behavior
  • despite requiring more time to reach criterion, mice respond faster on correct trails compared to wild-type mice and there are no differences in response to latency on incorrect trials or latency to retrieve reward pellets
  (MGI Ref ID J:197066)
  • over the course of testing (7 days), mutants decrease impulsive and compulsive responses and when they reach criterion, their impulsive and compulsive response totals are no different from wild-type mice
  (MGI Ref ID J:197066)
  • mutants produce more responses and fewer omissions than wild-type mice on day 1 of testing due to increased compulsive and impulsive responses
  (MGI Ref ID J:197066)
  • mice exhibit normal performance in a reward-based operant task during habituation but require more days and trials to reach criterion in the testing phase, indicating delayed learning
  (MGI Ref ID J:197066)