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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Abcb1atm1Bor
targeted mutation 1, Piet Borst
MGI:2180054
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Abcb1atm1Bor/Abcb1atm1Bor FVB.129P2-Abcb1atm1Bor/TacImx MGI:5693947
hm2
Abcb1atm1Bor/Abcb1atm1Bor FVBTac.129P2-Abcb1atm1Bor MGI:3611455
hm3
Abcb1atm1Bor/Abcb1atm1Bor involves: 129P2/OlaHsd * FVB MGI:2386648
cx4
Abcb1atm1Bor/Abcb1atm1Bor
Abcb1btm1Bor/Abcb1btm1Bor
Abcc2tm1Ahs/Abcc2tm1Ahs
FVB.129P2-Abcb1btm1Bor Abcb1atm1Bor Abcc2tm1Ahs MGI:3622124
cx5
Abcb1atm1Bor/Abcb1atm1Bor
Abcb1btm1Bor/Abcb1btm1Bor
Tg(Thy1-AppDutch)#Jckr/0
FVB.Cg-Abcb1btm1Bor Abcb1atm1Bor Tg(Thy1-AppDutch)#Jckr MGI:5301411
cx6
Abcb1atm1Bor/Abcb1atm1Bor
Abcb1btm1Bor/Abcb1btm1Bor
Tg(Thy1-APPSw,Thy1-PSEN1*L166P)21Jckr/0
FVB.Cg-Abcb1btm1Bor Abcb1atm1Bor Tg(Thy1-APPSw,Thy1-PSEN1*L166P)21Jckr MGI:5301408
cx7
Abcb1atm1Bor/Abcb1atm1Bor
Abcb1btm1Bor/Abcb1btm1Bor
FVBTac.129P2-Abcb1btm1Bor Abcb1atm1Bor MGI:3611454
cx8
Abcb1atm1Bor/Abcb1atm1Bor
Npc1m1N/Npc1m1N
involves: 129/Ola * BALB/c MGI:2386740
cx9
Abcb1atm1Bor/Abcb1atm1Bor
Abcb1btm1Bor/Abcb1btm1Bor
involves: 129P2/OlaHsd * FVB MGI:2386646


Genotype
MGI:5693947
hm1
Allelic
Composition
Abcb1atm1Bor/Abcb1atm1Bor
Genetic
Background
FVB.129P2-Abcb1atm1Bor/TacImx
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1atm1Bor mutation (3 available); any Abcb1a mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• dysregulated epithelial cell growth in areas of inflammation
• intestinal inflammation is characterized by massive thickening of the mucosa and inflammatory cell infiltrates into the lamina propria
• crypt length is increased in mice with colitis, with about 3-5 fold more epithelial cells per crypt
• occasional crypt abscesses extending through the mucosa to the muscular layer are seen in mice with colitis
• occasional ulcerations extending through the mucosa to the muscular layer are seen in mice with colitis
• about 20-25% of mice develop loose stools and anal mucous discharge by 1 year of age
• active intestinal inflammation that is primarily restricted to the large intestine
• inflammation spreads along the entire length of the colon
• increase in number of infiltrating CD3+ T cells scattered diffusely throughout the lamina propria; majority of infiltrating T cells are CD4+TCRalphabeta+
• presence of numerous B220+ B cell clusters/follicles within the lamina propria
• Gr1+ cellular infiltrates are prominent throughout the lamina propria of the large intestine
• mice develop spontaneous colitis with an average age of onset at 20 weeks, although the first signs of colitis can be seen between 8 and 36 weeks of age
• severe inflammation of the large intestine resembles human inflammatory bowel disease, ulcerative colitis
• prophylactic treatment with oral antibiotics prevents spontaneous colitis
• mice with active colitis treated with antibiotics show reversal of active inflammation within 3 weeks of continuous treatment

endocrine/exocrine glands
• crypt length is increased in mice with colitis, with about 3-5 fold more epithelial cells per crypt
• occasional crypt abscesses extending through the mucosa to the muscular layer are seen in mice with colitis

growth/size/body
• some mice with colitis develop a wasting-type disease
• however, majority of mice with colitis are maintained for up to 3 months without signs of cachexia

hematopoietic system
• lymphocytes from colitic mice have enhanced proliferative reactivity to bacterial Ags
• mice with active colitis show increased serum antibody titers
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis

immune system
• active intestinal inflammation that is primarily restricted to the large intestine
• inflammation spreads along the entire length of the colon
• increase in number of infiltrating CD3+ T cells scattered diffusely throughout the lamina propria; majority of infiltrating T cells are CD4+TCRalphabeta+
• presence of numerous B220+ B cell clusters/follicles within the lamina propria
• Gr1+ cellular infiltrates are prominent throughout the lamina propria of the large intestine
• mice develop spontaneous colitis with an average age of onset at 20 weeks, although the first signs of colitis can be seen between 8 and 36 weeks of age
• severe inflammation of the large intestine resembles human inflammatory bowel disease, ulcerative colitis
• prophylactic treatment with oral antibiotics prevents spontaneous colitis
• mice with active colitis treated with antibiotics show reversal of active inflammation within 3 weeks of continuous treatment
• lymphocytes from colitic mice have enhanced proliferative reactivity to bacterial Ags
• mice with active colitis show increased serum antibody titers
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis
• increased in mutants with colitis but not in mutants without active colitis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
inflammatory bowel disease 13 DOID:0110893 OMIM:612244
J:51190




Genotype
MGI:3611455
hm2
Allelic
Composition
Abcb1atm1Bor/Abcb1atm1Bor
Genetic
Background
FVBTac.129P2-Abcb1atm1Bor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1atm1Bor mutation (3 available); any Abcb1a mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• intraepithelial lymphocyte development is altered such that there is an increase in intraepithelial lymphocytes that express CD8alpha beta markers and a decrease in lymphocytes that express TCRgamma delta
• proportion of CD8+ intraepithelial lymphocytes expressing CD8alpha beta markers rose from 5% in wild-type to 34% in mutants
• intraepithelial lymphocyte development is altered such that there is an increase in intraepithelial lymphocytes that express CD8alpha beta markers and a decrease in lymphocytes that express TCRgamma delta

homeostasis/metabolism
• increased sensitivity to the general toxic effects of doxorubicin (adriamycin, ADM) and vinblastine (VBL) as assessed by physical deterioration signs
• however, sensitivity to cisplatin (CDDP), as assessed by physical deterioration signs, is normal
• in reponse to a single dose of adriamycin (10 mg/kg), homozygotes show progressively higher ABR thresholds relative to wild-type mice and pretreatment values at all test frequencies (2, 4, 8 kHz), reaching a peak value of 37.83.8 dB and significantly prolonged wave I latencies at 3 weeks after treatment
• in reponse to a single dose of vinblastine (4 mg/kg), homozygotes show progressively higher ABR thresholds relative to wild-type mice and pretreatment values at 8 kHz, reaching a peak value and significantly prolonged wave I latencies and waves I-V interpeak latencies at 3 weeks after treatment
• in response to injections of cisplatin (4 mg/kg) for 6 consecutive days, mutant and wild-type mice display similar ABR threshold shifts, which fail to recover even 5 weeks after the final injection
• prior to drug treatment, homozygotes show no significant differences in ABR thresholds and wave latencies relative to wild-type mice
• higher accumulation of ADM in inner ear tissues (2.62-fold), brain (5-fold), small intestine (4.7-fold), and plasma (1.67-fold) relative to wild-type mice at 24 hrs after a single i.v. injection (30 mg/kg) (J:59145)
• significantly higher accumulation of [3H]VBL in inner ear tissues (7.29-fold) and brain (8.4-fold) relative to wild-type mice at 24 hrs after a single i.v. injection (5 mg/kg) (J:59145)
• ratios of mutant to wild-type mice in tissue levels 24 hrs after injection of ADM and VBL are higher than those 4 hrs after injection (J:59145)
• similar accumulation of CDDP in inner ear tissues and brain relative to wild-type mice at 24 hrs after a single i.v. injection (15 mg/kg) (J:59145)
• lymph node T cells, but not intraepithelial lymphocytes, are impaired in extruding R-123 and efflux of R-123 is not inhibited by verapamil (J:102640)

hematopoietic system
• intraepithelial lymphocyte development is altered such that there is an increase in intraepithelial lymphocytes that express CD8alpha beta markers and a decrease in lymphocytes that express TCRgamma delta
• proportion of CD8+ intraepithelial lymphocytes expressing CD8alpha beta markers rose from 5% in wild-type to 34% in mutants
• intraepithelial lymphocyte development is altered such that there is an increase in intraepithelial lymphocytes that express CD8alpha beta markers and a decrease in lymphocytes that express TCRgamma delta

hearing/vestibular/ear
• homozygotes display disruption of the blood-inner ear barrier
• in reponse to a single dose of adriamycin (10 mg/kg), homozygotes show progressively higher ABR thresholds relative to wild-type mice and pretreatment values at all test frequencies (2, 4, 8 kHz), reaching a peak value of 37.83.8 dB and significantly prolonged wave I latencies at 3 weeks after treatment
• in reponse to a single dose of vinblastine (4 mg/kg), homozygotes show progressively higher ABR thresholds relative to wild-type mice and pretreatment values at 8 kHz, reaching a peak value and significantly prolonged wave I latencies and waves I-V interpeak latencies at 3 weeks after treatment
• in response to injections of cisplatin (4 mg/kg) for 6 consecutive days, mutant and wild-type mice display similar ABR threshold shifts, which fail to recover even 5 weeks after the final injection
• prior to drug treatment, homozygotes show no significant differences in ABR thresholds and wave latencies relative to wild-type mice

cardiovascular system
• homozygotes display disruption of the blood-inner ear barrier




Genotype
MGI:2386648
hm3
Allelic
Composition
Abcb1atm1Bor/Abcb1atm1Bor
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1atm1Bor mutation (3 available); any Abcb1a mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• increased sensitivity to the drugs ivermectin and vinblastine
• rate of rhodamine efflux from hematopoietic progenitor cells is diminished

cardiovascular system
• mutants given oral subtoxic doses of livermectin show 90-fold higher levels of the drug in the brain than in wild-type after 24 hours, indicating impaired blood-brain barrier function

nervous system
• mutants given oral subtoxic doses of livermectin show 90-fold higher levels of the drug in the brain than in wild-type after 24 hours, indicating impaired blood-brain barrier function




Genotype
MGI:3622124
cx4
Allelic
Composition
Abcb1atm1Bor/Abcb1atm1Bor
Abcb1btm1Bor/Abcb1btm1Bor
Abcc2tm1Ahs/Abcc2tm1Ahs
Genetic
Background
FVB.129P2-Abcb1btm1Bor Abcb1atm1Bor Abcc2tm1Ahs
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1atm1Bor mutation (3 available); any Abcb1a mutation (14 available)
Abcb1btm1Bor mutation (2 available); any Abcb1b mutation (48 available)
Abcc2tm1Ahs mutation (1 available); any Abcc2 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• bilary excretion of doxorubicin is reduced to about 2% normal




Genotype
MGI:5301411
cx5
Allelic
Composition
Abcb1atm1Bor/Abcb1atm1Bor
Abcb1btm1Bor/Abcb1btm1Bor
Tg(Thy1-AppDutch)#Jckr/0
Genetic
Background
FVB.Cg-Abcb1btm1Bor Abcb1atm1Bor Tg(Thy1-AppDutch)#Jckr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1atm1Bor mutation (3 available); any Abcb1a mutation (14 available)
Abcb1btm1Bor mutation (2 available); any Abcb1b mutation (48 available)
Tg(Thy1-AppDutch)#Jckr mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mutants exhibit a similar level of cerebral amyloid angiopathy as in single Tg(Thy1-AppDutch)#Jckr transgenic mice

homeostasis/metabolism
• mutants exhibit a similar level of cerebral amyloid angiopathy as in single Tg(Thy1-AppDutch)#Jckr transgenic mice




Genotype
MGI:5301408
cx6
Allelic
Composition
Abcb1atm1Bor/Abcb1atm1Bor
Abcb1btm1Bor/Abcb1btm1Bor
Tg(Thy1-APPSw,Thy1-PSEN1*L166P)21Jckr/0
Genetic
Background
FVB.Cg-Abcb1btm1Bor Abcb1atm1Bor Tg(Thy1-APPSw,Thy1-PSEN1*L166P)21Jckr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1atm1Bor mutation (3 available); any Abcb1a mutation (14 available)
Abcb1btm1Bor mutation (2 available); any Abcb1b mutation (48 available)
Tg(Thy1-APPSw,Thy1-PSEN1*L166P)21Jckr mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mutants exhibit an increase in the cortical load and size of amyloid beta-positive plaques compared to single Tg(Thy1-APPSw,Thy1-PSEN1*L166P)21Jckr mice

homeostasis/metabolism
• mutants exhibit an increase in the cortical load and size of amyloid beta-positive plaques compared to single Tg(Thy1-APPSw,Thy1-PSEN1*L166P)21Jckr mice




Genotype
MGI:3611454
cx7
Allelic
Composition
Abcb1atm1Bor/Abcb1atm1Bor
Abcb1btm1Bor/Abcb1btm1Bor
Genetic
Background
FVBTac.129P2-Abcb1btm1Bor Abcb1atm1Bor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1atm1Bor mutation (3 available); any Abcb1a mutation (14 available)
Abcb1btm1Bor mutation (2 available); any Abcb1b mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• increase in CD4+CD8+ intestinal intraepithelial lymphocytes
• intestinal intraepithelial lymphocyte development is altered such that there is an increase in lymphocytes that express CD8alpha beta markers and a decrease in lymphocytes that express TCRgamma delta
• proportion of CD8+ intestinal intraepithelial lymphocytes expressing CD8alpha beta markers rose from 5% in wild-type to 27% in mutants
• intestinal intraepithelial lymphocyte development is altered such that there is an increase in lymphocytes that express CD8alpha beta markers and a decrease in lymphocytes that express TCRgamma delta
• proliferative responses of isolated intestinal intraepithelial lymphocytes are higher in response to PMA stimulation and lower than wild-type in response to anti-CD28 stimulation
• PMA plus ionomycin stimulation results in increased IFN-gamma production by isolated intestinal intraepithelial lymphocytes compared to wild-type
• isolated intestinal intraepithelial lymphocytes produce increased levels of IL-2
• PMA plus ionomycin stimulation results in increased IL-2 production by intestinal intraepithelial lymphocytes compared with wild-type while anti-CD28 stimulation results in decreased IL-2 production compared to wild-type

homeostasis/metabolism
• lymph node T cells and to a lesser extent, intestinal intraepithelial lymphocytes, are impaired in extruding R-123, and efflux of R-123 is not inhibited by verapamil or reserpine as in controls (J:102640)
• bilary excretion of doxorubicin reduced by about 90% (J:107822)

hematopoietic system
• increase in CD4+CD8+ intestinal intraepithelial lymphocytes
• intestinal intraepithelial lymphocyte development is altered such that there is an increase in lymphocytes that express CD8alpha beta markers and a decrease in lymphocytes that express TCRgamma delta
• proportion of CD8+ intestinal intraepithelial lymphocytes expressing CD8alpha beta markers rose from 5% in wild-type to 27% in mutants
• intestinal intraepithelial lymphocyte development is altered such that there is an increase in lymphocytes that express CD8alpha beta markers and a decrease in lymphocytes that express TCRgamma delta
• proliferative responses of isolated intestinal intraepithelial lymphocytes are higher in response to PMA stimulation and lower than wild-type in response to anti-CD28 stimulation




Genotype
MGI:2386740
cx8
Allelic
Composition
Abcb1atm1Bor/Abcb1atm1Bor
Npc1m1N/Npc1m1N
Genetic
Background
involves: 129/Ola * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1atm1Bor mutation (3 available); any Abcb1a mutation (14 available)
Npc1m1N mutation (3 available); any Npc1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• neurological symptoms apparent and progressive, beginning at ~ day 50 of life
• failed to care for pups

homeostasis/metabolism
• cholesterol accumulation in liver

reproductive system
N
• mice were fertile

liver/biliary system
• cholesterol accumulation in liver

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Niemann-Pick disease DOID:14504 J:76395




Genotype
MGI:2386646
cx9
Allelic
Composition
Abcb1atm1Bor/Abcb1atm1Bor
Abcb1btm1Bor/Abcb1btm1Bor
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1atm1Bor mutation (3 available); any Abcb1a mutation (14 available)
Abcb1btm1Bor mutation (2 available); any Abcb1b mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• altered pharmacokinetics of digoxin, with reduced elimination (and thus accumulation) of digoxin in the brain, adrenal glands, ovaries, and testis
• intestinal, but not biliary or urinary, excretion of digoxin is reduced in mice with a cannulated gallbladder
• intestinal, but not biliary or urinary, excretion of the anticancer drug paclitaxel is decreased compared to wild-type
• decreased rate of rhodamine efflux from hematopoietic progenitor cells





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last database update
10/09/2018
MGI 6.12
The Jackson Laboratory