JAX
Mouse Strain Datasheet - 005504
B6.D2-Dtnbp1sdy/LmLlpJ
This strain is extinct, please refer to Stock No. 001594
Genetic overview
| Genetic Background | Generation |
|---|---|
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Dtnbp1sdy
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Spontaneous | Dtnbp1 | dystrobrevin binding protein 1 |
Research Applications
- Dermatology Research
- Hematological Research
- Internal/Organ Research
Control Suggestions
- Heterozygote from the colony
- 000664 C57BL/6J
Additional Information
Dtnbp1sdy
Allele Symbol: Dtnbp1sdy
| Allele Name | sandy |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | Dys KO; Dys-; sdy; sdy- |
| Gene Symbol and Name | Dtnbp1, dystrobrevin binding protein 1 |
| Gene Synonym(s) | 5430437B18Rik; 5430437B18Rik; AW048963; BLOC1S8; Bloc1s8; DBND; HPS7; My031; RIKEN cDNA 5430437B18 gene; SDY; dysbindin; expressed sequence AW048963; sandy; sdy; sdy |
| Strain of Origin | DBA/2J |
| Chromosome | 13 |
| Molecular Note | The mutation in the sandy mouse has been attributed to a deletion in the Dtnbp1 gene from intron 5 nucleotide 3701 to intron 7 nucleotide 12377. The deletion results in the loss of 52 amino acids from position 119-172 and abolishes expression of the protein. Western analysis did not detect protein in hippocampus tissue from homozygous mutant mice. |
Disease Terms
Research Areas By Genotype
This mouse can be used to support research in many areas including:
Genotype: Dtnbp1sdy related
- Dermatology Research
- Color and White Spotting Defects
- Hematological Research
- Platelet Defects
- platelet storage pool deficiency
- Platelet Defects
- Internal/Organ Research
- Kidney Defects
- lysosomal enzyme abnormalities
- Kidney Defects
Mammalian Phenotype Terms by Genotype
Genotype: Dtnbp1sdy/Dtnbp1sdy
B6J.D2-Dtnbp1sdy
behavior/neurological phenotype
- abnormal circadian rhythm
- 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 micece (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 lightility is most pronounced during constant light, indicating that circadian clock is more sensitive to the effects of constant light (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)
- 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)
- 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)
- 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)
- 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 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 micehat is still higher than seen in wild-type mice (MGI Ref ID J:223954)
homeostasis/metabolism phenotype
- homeostasis/metabolism phenotype
- 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
- 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 micecits, however, it is still decreased compared to wild-type mice (MGI Ref ID J:223954)
The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain
Genotype: Dtnbp1sdy/Dtnbp1+
DBA/2J-Dtnbp1sdy/J
behavior/neurological phenotype
- 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)
- 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)
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)
Genotype: Dtnbp1sdy/Dtnbp1sdy
involves: DBA/2J
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)
- abnormal retinal pigment epithelium morphology
- mice had fewer melanosomes in the retinal pigment epithelium (MGI Ref ID J:85123)
- diluted coat color
- (MGI Ref ID J:1958)
behavior/neurological phenotype
- behavior/neurological phenotype
- preliminary tests of mice, including prepulse inhibition tests identified no behavioral abnormalities (MGI Ref ID J:85123)
hematopoietic system phenotype
- abnormal platelet physiology
- platelets have an abnormal uptake and flashing of mepacrine dye (MGI Ref ID J:85123)
- decreased platelet aggregation
- platelets have a reduced rate of collagen-induced aggregation (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)
muscle phenotype
- muscle phenotype
- mice have no obvious muscle abnormalities (MGI Ref ID J:85123)
renal/urinary system phenotype
- abnormal kidney physiology
vision/eye 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)
- abnormal optic choroid morphology
- choroids melanosomes were generally smaller and irregular (MGI Ref ID J:85123)
- abnormal retinal pigment epithelium morphology
- mice had fewer melanosomes in the retinal pigment epithelium (MGI Ref ID J:85123)
homeostasis/metabolism phenotype
- 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)
- abnormal platelet physiology
- platelets have an abnormal uptake and flashing of mepacrine dye (MGI Ref ID J:85123)
- decreased platelet aggregation
- platelets have a reduced rate of collagen-induced aggregation (MGI Ref ID J:85123)
- decreased platelet serotonin level
- platelet serotonin levels are low although ATP dependent acidification activity of platelet organelles appears normal (MGI Ref ID J:85123)
integument phenotype
- diluted coat color
- (MGI Ref ID J:1958)
Genotype: Dtnbp1sdy/Dtnbp1sdy
DBA/2J-Dtnbp1sdy/J
pigmentation phenotype
- decreased eye pigmentation
- pink eyes (MGI Ref ID J:14267)
- diluted coat color
- (MGI Ref ID J:14267)
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)
- 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)
- 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)
- enhanced cued conditioning behavior
- 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)
vision/eye phenotype
- decreased eye pigmentation
- pink eyes (MGI Ref ID J:14267)
homeostasis/metabolism phenotype
- increased bleeding time
- (MGI Ref ID J:14267)
integument phenotype
- diluted coat color
- (MGI Ref ID J:14267)
- 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)
References
Additional - Dtnbp1sdy related
- Abdelmagid SM; Belcher JY; Moussa FM; Lababidi SL; Sondag GR; Novak KM; Sanyurah AS; Frara NA; Razmpour R; Del Carpio-Cano FE; Safadi FF. 2014. Mutation in Osteoactivin Decreases Bone Formation in Vivo and Osteoblast Differentiation in Vitro. Am J Pathol 184(3):697-713. PubMed: 24462663MGI: J:206565
- Bhardwaj SK; Baharnoori M; Sharif-Askari B; Kamath A; Williams S; Srivastava LK. 2009. Behavioral characterization of dysbindin-1 deficient sandy mice. Behav Brain Res 197(2):435-41. PubMed: 18984010MGI: J:143912
- Bhardwaj SK; Stojkovic K; Kiessling S; Srivastava LK; Cermakian N. 2015. Constant light uncovers behavioral effects of a mutation in the schizophrenia risk gene Dtnbp1 in mice. Behav Brain Res 284:58-68. PubMed: 25677649MGI: J:223954
- Bossi G; Booth S; Clark R; Davis EG; Liesner R; Richards K; Starcevic M; Stinchcombe J; Trambas C; Dell'Angelica EC; Griffiths GM. 2005. Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV. Traffic 6(3):243-51. PubMed: 15702992MGI: J:105404
- Carlson GC; Talbot K; Halene TB; Gandal MJ; Kazi HA; Schlosser L; Phung QH; Gur RE; Arnold SE; Siegel SJ. 2011. From the Cover: Dysbindin-1 mutant mice implicate reduced fast-phasic inhibition as a final common disease mechanism in schizophrenia. Proc Natl Acad Sci U S A 108(43):E962-70. PubMed: 21969553MGI: J:177512
- Carr GV; Jenkins KA; Weinberger DR; Papaleo F. 2013. Loss of dysbindin-1 in mice impairs reward-based operant learning by increasing impulsive and compulsive behavior. Behav Brain Res 241:173-84. PubMed: 23261874MGI: J:197066
- Chen XW; Feng YQ; Hao CJ; Guo XL; He X; Zhou ZY; Guo N; Huang HP; Xiong W; Zheng H; Zuo PL; Zhang CX; Li W; Zhou Z. 2008. DTNBP1, a schizophrenia susceptibility gene, affects kinetics of transmitter release. J Cell Biol 181(5):791-801. PubMed: 18504299MGI: J:137024
- Cox MM; Tucker AM; Tang J; Talbot K; Richer DC; Yeh L; Arnold SE. 2009. Neurobehavioral abnormalities in the dysbindin-1 mutant, sandy, on a C57BL/6J genetic background. Genes Brain Behav 8(4):390-7. PubMed: 19220483MGI: J:151119
- Fei E; Ma X; Zhu C; Xue T; Yan J; Xu Y; Zhou J; Wang G. 2010. Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression. J Biol Chem 285(49):38630-40. PubMed: 20921223MGI: J:196265
- Gokhale A; Hartwig C; Freeman AH; Das R; Zlatic SA; Vistein R; Burch A; Carrot G; Lewis AF; Nelms S; Dickman DK; Puthenveedu MA; Cox DN; Faundez V. 2016. The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin Polymerization Complex to Function Downstream of the Schizophrenia Susceptibility Factor Dysbindin at the Synapse. J Neurosci 36(49):12393-12411. PubMed: 27927957MGI: J:237336
- Gokhale A; Larimore J; Werner E; So L; Moreno-De-Luca A; Lese-Martin C; Lupashin VV; Smith Y; Faundez V. 2012. Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1. J Neurosci 32(11):3697-711. PubMed: 22423091MGI: J:183082
- Hao Z; Wei L; Feng Y; Chen X; Du W; Ma J; Zhou Z; Chen L; Li W. 2015. Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cells. J Cell Sci 128(7):1365-74. PubMed: 25673877MGI: J:231502
- Hattori S; Murotani T; Matsuzaki S; Ishizuka T; Kumamoto N; Takeda M; Tohyama M; Yamatodani A; Kunugi H; Hashimoto R. 2008. Behavioral abnormalities and dopamine reductions in sdy mutant mice with a deletion in Dtnbp1, a susceptibility gene for schizophrenia. Biochem Biophys Res Commun 373(2):298-302. PubMed: 18555792MGI: J:137937
- Jentsch JD; Trantham-Davidson H; Jairl C; Tinsley M; Cannon TD; Lavin A. 2009. Dysbindin modulates prefrontal cortical glutamatergic circuits and working memory function in mice. Neuropsychopharmacology 34(12):2601-8. PubMed: 19641486MGI: J:185485
- Ji Y; Yang F; Papaleo F; Wang HX; Gao WJ; Weinberger DR; Lu B. 2009. Role of dysbindin in dopamine receptor trafficking and cortical GABA function. Proc Natl Acad Sci U S A 106(46):19593-8. PubMed: 19887632MGI: J:154762
- Jia JM; Zhao J; Hu Z; Lindberg D; Li Z. 2013. Age-dependent regulation of synaptic connections by dopamine D2 receptors. Nat Neurosci 16(11):1627-36. PubMed: 24121738MGI: J:207420
- Kobayashi K; Umeda-Yano S; Yamamori H; Takeda M; Suzuki H; Hashimoto R. 2011. Correlated alterations in serotonergic and dopaminergic modulations at the hippocampal mossy fiber synapse in mice lacking dysbindin. PLoS One 6(3):e18113. PubMed: 21448290MGI: J:171669
- Kubota K; Kumamoto N; Matsuzaki S; Hashimoto R; Hattori T; Okuda H; Takamura H; Takeda M; Katayama T; Tohyama M. 2009. Dysbindin engages in c-Jun N-terminal kinase activity and cytoskeletal organization. Biochem Biophys Res Commun 379(2):191-5. PubMed: 19094965MGI: J:144529
- Kvajo M; McKellar H; Gogos JA. 2012. Avoiding mouse traps in schizophrenia genetics: lessons and promises from current and emerging mouse models. Neuroscience 211:136-64. PubMed: 21821099MGI: J:184660
- Larimore J; Tornieri K; Ryder PV; Gokhale A; Zlatic SA; Craige B; Lee JD; Talbot K; Pare JF; Smith Y; Faundez V. 2011. The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell 22(24):4854-67. PubMed: 21998198MGI: J:187545
- Li W; Zhang Q; Oiso N; Novak EK; Gautam R; O'Brien EP; Tinsley CL; Blake DJ; Spritz RA; Copeland NG; Jenkins NA; Amato D; Roe BA; Starcevic M; Dell'Angelica EC; Elliott RW; Mishra V; Kingsmore SF; Paylor RE; Swank RT. 2003. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 35(1):84-9. PubMed: 12923531MGI: J:85123
- Murotani T; Ishizuka T; Hattori S; Hashimoto R; Matsuzaki S; Yamatodani A. 2007. High dopamine turnover in the brains of Sandy mice. Neurosci Lett 421(1):47-51. PubMed: 17548156MGI: J:143015
- Nagai T; Kitahara Y; Shiraki A; Hikita T; Taya S; Kaibuchi K; Yamada K. 2010. Dysfunction of dopamine release in the prefrontal cortex of dysbindin deficient sandy mice: an in vivo microdialysis study. Neurosci Lett 470(2):134-8. PubMed: 20045719MGI: J:156872
- Nguyen T; Wei ML. 2004. Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation. J Invest Dermatol 122(2):452-60. PubMed: 15009730MGI: J:88797
- Nihonmatsu-Kikuchi N; Hashimoto R; Hattori S; Matsuzaki S; Shinozaki T; Miura H; Ohota S; Tohyama M; Takeda M; Tatebayashi Y. 2011. Reduced rate of neural differentiation in the dentate gyrus of adult dysbindin null (sandy) mouse. PLoS One 6(1):e15886. PubMed: 21267465MGI: J:169460
- Okuda H; Kuwahara R; Matsuzaki S; Miyata S; Kumamoto N; Hattori T; Shimizu S; Yamada K; Kawamoto K; Hashimoto R; Takeda M; Katayama T; Tohyama M. 2010. Dysbindin regulates the transcriptional level of myristoylated alanine-rich protein kinase C substrate via the interaction with NF-YB in mice brain. PLoS One 5(1):e8773. PubMed: 20098743MGI: J:157625
- Orozco IJ; Koppensteiner P; Ninan I; Arancio O. 2014. The schizophrenia susceptibility gene DTNBP1 modulates AMPAR synaptic transmission and plasticity in the hippocampus of juvenile DBA/2J mice. Mol Cell Neurosci 58:76-84. PubMed: 24321452MGI: J:215716
- Saggu S; Cannon TD; Jentsch JD; Lavin A. 2013. Potential molecular mechanisms for decreased synaptic glutamate release in dysbindin-1 mutant mice. Schizophr Res 146(1-3):254-63. PubMed: 23473812MGI: J:197997
- Swank RT; Novak EK; McGarry MP; Rusiniak ME; Feng L. 1998. Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res 11(2):60-80. PubMed: 9585243MGI: J:88018
- Swank RT; Sweet HO; Davisson MT; Reddington M; Novak EK. 1991. Sandy: a new mouse model for platelet storage pool deficiency. Genet Res 58(1):51-62. PubMed: 1936982MGI: J:1958
- Sweet HO. 1990. Sandy (sdy). Mouse Genome 86:237. MGI: J:14267
- Tang TT; Yang F; Chen BS; Lu Y; Ji Y; Roche KW; Lu B. 2009. Dysbindin regulates hippocampal LTP by controlling NMDA receptor surface expression. Proc Natl Acad Sci U S A 106(50):21395-400. PubMed: 19955431MGI: J:155828
- White RS; Siegel SJ. 2016. Cellular and circuit models of increased resting-state network gamma activity in schizophrenia. Neuroscience 321:66-76. PubMed: 26577758MGI: J:232354
- Xie T; Nguyen T; Hupe M; Wei ML. 2009. Multidrug resistance decreases with mutations of melanosomal regulatory genes. Cancer Res 69(3):992-9. PubMed: 19155314MGI: J:144973
- Yang Q; He X; Yang L; Zhou Z; Cullinane AR; Wei A; Zhang Z; Hao Z; Zhang A; He M; Feng Y; Gao X; Gahl WA; Huizing M; Li W. 2012. The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic 13(8):1160-9. PubMed: 22554196MGI: J:192646
- Yang W; Zhu C; Shen Y; Xu Q. 2016. The pathogenic mechanism of dysbindin-1B toxic aggregation: BLOC-1 and intercellular vesicle trafficking. Neuroscience 333:78-91. PubMed: 27421225MGI: J:238133
- Zhang W; Daly KM; Liang B; Zhang L; Li X; Li Y; Lin DT. 2017. BDNF rescues prefrontal dysfunction elicited by pyramidal neuron-specific DTNBP1 deletion in vivo. J Mol Cell Biol 9(2):117-131. PubMed: 27330059MGI: J:242059
- Zhou W; He Q; Zhang C; He X; Cui Z; Liu F; Li W. 2016. BLOS2 negatively regulates Notch signaling during neural and hematopoietic stem and progenitor cell development. Elife 5:. PubMed: 27719760MGI: J:238623