All Phenotypes Abcb1a<tm1Bor> MGI Mouse

Phenotypes associated with this allele

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

digestive/alimentary system

mucous diarrhea ( J:51190 )

• about 20-25% of mice develop loose stools and anal mucous discharge by 1 year of age

abnormal intestinal epithelium morphology ( J:51190 )

• dysregulated epithelial cell growth in areas of inflammation

abnormal intestinal mucosa morphology ( J:51190 )

• intestinal inflammation is characterized by massive thickening of the mucosa and inflammatory cell infiltrates into the lamina propria

abnormal large intestine crypts of Lieberkuhn morphology ( J:51190 )

• crypt length is increased in mice with colitis, with about 3-5 fold more epithelial cells per crypt

crypts of Lieberkuhn abscesses ( J:51190 )

• occasional crypt abscesses extending through the mucosa to the muscular layer are seen in mice with colitis

intestinal ulcer ( J:51190 )

• occasional ulcerations extending through the mucosa to the muscular layer are seen in mice with colitis

large intestinal inflammation ( J:51190 )

• 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

colitis ( J:51190 )

• 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

abnormal large intestine crypts of Lieberkuhn morphology ( J:51190 )

• crypt length is increased in mice with colitis, with about 3-5 fold more epithelial cells per crypt

crypts of Lieberkuhn abscesses ( J:51190 )

• occasional crypt abscesses extending through the mucosa to the muscular layer are seen in mice with colitis

growth/size/body

cachexia ( J:51190 )

• 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

abnormal lymphocyte physiology ( J:51190 )

• lymphocytes from colitic mice have enhanced proliferative reactivity to bacterial Ags

increased immunoglobulin level ( J:51190 )

• mice with active colitis show increased serum antibody titers

increased IgA level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgE level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG1 level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG2 level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG2a level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG2b level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG3 level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgM level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

immune system

large intestinal inflammation ( J:51190 )

• 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

colitis ( J:51190 )

• 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

abnormal lymphocyte physiology ( J:51190 )

• lymphocytes from colitic mice have enhanced proliferative reactivity to bacterial Ags

increased immunoglobulin level ( J:51190 )

• mice with active colitis show increased serum antibody titers

increased IgA level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgE level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG1 level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG2 level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG2a level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG2b level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgG3 level ( J:51190 )

• increased in mutants with colitis but not in mutants without active colitis

increased IgM level ( J:51190 )

• 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

Allelic Composition	Abcb1a^tm1Bor/Abcb1a^tm1Bor
Genetic Background	FVBTac.129P2-Abcb1a^tm1Bor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1a^tm1Bor mutation (3 available); any Abcb1a mutation (93 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

decreased gamma-delta intraepithelial T cell number ( J:102640 )

• 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

abnormal CD8 positive, alpha-beta intraepithelial T cell morphology ( J:102640 )

• proportion of CD8+ intraepithelial lymphocytes expressing CD8alpha beta markers rose from 5% in wild-type to 34% in mutants

homeostasis/metabolism

increased physiological sensitivity to xenobiotic ( J:59145 )

• 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

increased susceptibility to ototoxicity-induced hearing loss ( J:59145 )

• 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

abnormal xenobiotic pharmacokinetics ( J:59145 , J:102640 )

• 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

decreased gamma-delta intraepithelial T cell number ( J:102640 )

abnormal CD8 positive, alpha-beta intraepithelial T cell morphology ( J:102640 )

• proportion of CD8+ intraepithelial lymphocytes expressing CD8alpha beta markers rose from 5% in wild-type to 34% in mutants

hearing/vestibular/ear

abnormal blood-inner ear barrier function ( J:59145 )

• homozygotes display disruption of the blood-inner ear barrier

increased susceptibility to ototoxicity-induced hearing loss ( J:59145 )

• prior to drug treatment, homozygotes show no significant differences in ABR thresholds and wave latencies relative to wild-type mice

cardiovascular system

abnormal blood-inner ear barrier function ( J:59145 )

• homozygotes display disruption of the blood-inner ear barrier

Allelic Composition	Abcb1a^tm1Bor/Abcb1a^tm1Bor
Genetic Background	involves: 129P2/OlaHsd * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1a^tm1Bor mutation (3 available); any Abcb1a mutation (93 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

increased physiological sensitivity to xenobiotic ( J:18554 )

• increased sensitivity to the drugs ivermectin and vinblastine

abnormal xenobiotic pharmacokinetics ( J:39804 )

• rate of rhodamine efflux from hematopoietic progenitor cells is diminished

cardiovascular system

impaired blood-brain barrier function ( J:18554 )

• 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

impaired blood-brain barrier function ( J:18554 )

• 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

Allelic Composition	Abcb1a^tm1Bor/Abcb1a^tm1Bor Abcb1b^tm1Bor/Abcb1b^tm1Bor Abcc2^tm1Ahs/Abcc2^tm1Ahs
Genetic Background	FVB.129P2-Abcb1b^tm1Bor Abcb1a^tm1Bor Abcc2^tm1Ahs

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1a^tm1Bor mutation (3 available); any Abcb1a mutation (93 available)
Abcb1b^tm1Bor mutation (2 available); any Abcb1b mutation (84 available)
Abcc2^tm1Ahs mutation (0 available); any Abcc2 mutation (90 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

abnormal xenobiotic pharmacokinetics ( J:107822 )

• bilary excretion of doxorubicin is reduced to about 2% normal

Allelic Composition	Abcb1a^tm1Bor/Abcb1a^tm1Bor Abcb1b^tm1Bor/Abcb1b^tm1Bor Tg(Thy1-APPDutch)#Jckr/0
Genetic Background	FVB.Cg-Abcb1b^tm1Bor Abcb1a^tm1Bor Tg(Thy1-APPDutch)#Jckr

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♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

nervous system

amyloid beta deposits ( J:178230 )

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

homeostasis/metabolism

amyloid beta deposits ( J:178230 )

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

Allelic Composition	Abcb1a^tm1Bor/Abcb1a^tm1Bor Abcb1b^tm1Bor/Abcb1b^tm1Bor Tg(Thy1-APPSw,Thy1-PSEN1*L166P)21Jckr/0
Genetic Background	FVB.Cg-Abcb1b^tm1Bor Abcb1a^tm1Bor Tg(Thy1-APPSw,Thy1-PSEN1*L166P)21Jckr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1a^tm1Bor mutation (3 available); any Abcb1a mutation (93 available)
Abcb1b^tm1Bor mutation (2 available); any Abcb1b mutation (84 available)
Tg(Thy1-APPSw,Thy1-PSEN1*L166P)21Jckr mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

nervous system

amyloid beta deposits ( J:178230 )

• 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

amyloid beta deposits ( J:178230 )

• 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

Allelic Composition	Abcb1a^tm1Bor/Abcb1a^tm1Bor Abcb1b^tm1Bor/Abcb1b^tm1Bor
Genetic Background	FVBTac.129P2-Abcb1b^tm1Bor Abcb1a^tm1Bor

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

increased double-positive T cell number ( J:102640 )

• increase in CD4+CD8+ intestinal intraepithelial lymphocytes

decreased gamma-delta intraepithelial T cell number ( J:102640 )

• 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

abnormal CD8 positive, alpha-beta intraepithelial T cell morphology ( J:102640 )

• proportion of CD8+ intestinal intraepithelial lymphocytes expressing CD8alpha beta markers rose from 5% in wild-type to 27% in mutants

abnormal T cell physiology ( J:102640 )

• 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

increased interferon-gamma secretion ( J:102640 )

• PMA plus ionomycin stimulation results in increased IFN-gamma production by isolated intestinal intraepithelial lymphocytes compared to wild-type

increased interleukin-2 secretion ( J:102640 )

• 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

abnormal xenobiotic pharmacokinetics ( J:102640 , J:107822 )

• 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

increased double-positive T cell number ( J:102640 )

• increase in CD4+CD8+ intestinal intraepithelial lymphocytes

decreased gamma-delta intraepithelial T cell number ( J:102640 )

abnormal CD8 positive, alpha-beta intraepithelial T cell morphology ( J:102640 )

• proportion of CD8+ intestinal intraepithelial lymphocytes expressing CD8alpha beta markers rose from 5% in wild-type to 27% in mutants

abnormal T cell physiology ( J:102640 )

• 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

Allelic Composition	Abcb1a^tm1Bor/Abcb1a^tm1Bor Npc1^m1N/Npc1^m1N
Genetic Background	involves: 129/Ola * BALB/c

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1a^tm1Bor mutation (3 available); any Abcb1a mutation (93 available)
Npc1^m1N mutation (3 available); any Npc1 mutation (74 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:76395 )

• neurological symptoms apparent and progressive, beginning at ~ day 50 of life

abnormal maternal nurturing ( J:76395 )

• failed to care for pups

homeostasis/metabolism

increased liver cholesterol level ( J:76395 )

• cholesterol accumulation in liver

reproductive system

reproductive system phenotype ( J:76395 )

N	• mice were fertile

liver/biliary system

increased liver cholesterol level ( J:76395 )

• cholesterol accumulation in liver

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

Allelic Composition	Abcb1a^tm1Bor/Abcb1a^tm1Bor Abcb1b^tm1Bor/Abcb1b^tm1Bor
Genetic Background	involves: 129P2/OlaHsd * FVB

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

abnormal xenobiotic pharmacokinetics ( J:39804 )

• 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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