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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dtnbp1sdy
sandy
MGI:1856628
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dtnbp1sdy/Dtnbp1sdy B6J.D2-Dtnbp1sdy MGI:5689331
hm2
Dtnbp1sdy/Dtnbp1sdy DBA/2J-Dtnbp1sdy/J MGI:4358724
hm3
Dtnbp1sdy/Dtnbp1sdy involves: DBA/2J MGI:2673003
ht4
Dtnbp1sdy/Dtnbp1+ DBA/2J-Dtnbp1sdy/J MGI:5689329


Genotype
MGI:5689331
hm1
Allelic
Composition
Dtnbp1sdy/Dtnbp1sdy
Genetic
Background
B6J.D2-Dtnbp1sdy
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtnbp1sdy mutation (1 available); any Dtnbp1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 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
• 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
• mutants produce more responses and fewer omissions than wild-type mice on day 1 of testing due to increased compulsive and impulsive responses
• 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
• 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
• 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
• 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
• 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

homeostasis/metabolism
N
• corticosterone secretion in feces under both light-dark conditions and constant light conditions is similar to wild-type

nervous system
• 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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
schizophrenia DOID:5419 OMIM:181500
J:197066 , J:223954




Genotype
MGI:4358724
hm2
Allelic
Composition
Dtnbp1sdy/Dtnbp1sdy
Genetic
Background
DBA/2J-Dtnbp1sdy/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtnbp1sdy mutation (1 available); any Dtnbp1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation

behavior/neurological
• mice exhibit a smaller increase in locomotor activity following acute amphetamine treatment compared to wild-type mice
• 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
• mutants exhibit increased freezing to an auditory tone compared to wild-type controls, suggesting enhanced amygdala-related fear memory
• however, contextual memory appears to be intact
• 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
• after 5 min of retention interval, mutants spend less time exploring a new object compared to controls indicating impaired short-term object recognition memory
• mutants take more time in removing their paw from a high intensity beam indicating less sensitivity to thermal nociception

vision/eye

homeostasis/metabolism

integument

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
schizophrenia DOID:5419 OMIM:181500
J:143912




Genotype
MGI:2673003
hm3
Allelic
Composition
Dtnbp1sdy/Dtnbp1sdy
Genetic
Background
involves: DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtnbp1sdy mutation (1 available); any Dtnbp1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• mice have diluted pigmentation in eyes
• mice had fewer melanosomes in the choroids
• mice had fewer melanosomes in the retinal pigment epithelium

behavior/neurological
N
• preliminary tests of mice, including prepulse inhibition tests identified no behavioral abnormalities

hematopoietic system
• thrombin-stimulated platelets is depressed 2- and 3-fold
• platelet dense granules are reduced in number (J:1958)
• absent (J:85123)
• platelet serotonin levels are low although ATP dependent acidification activity of platelet organelles appears normal
• platelets have an abnormal uptake and flashing of mepacrine dye (J:85123)
• platelets exhibit significantly deficient uptake of mepacrine compared with wild-type cells (J:323340)
• platelets exposed to collagen or thrombin exhibit defective release of ATP compared with wild-type cells (J:323340)
• platelets have a reduced rate of collagen-induced aggregation

muscle
N
• mice have no obvious muscle abnormalities

renal/urinary system
• secretion of lysosomal enzymes from kidney is depressed 2- and 3-fold
• ceroid pigment is present in the kidney

vision/eye
• mice have diluted pigmentation in eyes
• mice had fewer melanosomes in the retinal pigment epithelium
• choroids melanosomes were generally smaller and irregular
• mice had fewer melanosomes in the choroids

homeostasis/metabolism
• platelet serotonin levels are low although ATP dependent acidification activity of platelet organelles appears normal
• platelets have an abnormal uptake and flashing of mepacrine dye (J:85123)
• platelets exhibit significantly deficient uptake of mepacrine compared with wild-type cells (J:323340)
• platelets exposed to collagen or thrombin exhibit defective release of ATP compared with wild-type cells (J:323340)
• platelets have a reduced rate of collagen-induced aggregation
• mice have a prolonged bleeding time

integument




Genotype
MGI:5689329
ht4
Allelic
Composition
Dtnbp1sdy/Dtnbp1+
Genetic
Background
DBA/2J-Dtnbp1sdy/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtnbp1sdy mutation (1 available); any Dtnbp1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• after 5 min of retention interval, mutants spend less time exploring a new object compared to controls indicating impaired short-term object recognition memory
• mutants take more time in removing their paw from a high intensity beam indicating less sensitivity to thermal nociception





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory