Phenotypes associated with this allele

• Allele Symbol: Itgb2^tm1Bay
• Allele Name: targeted mutation 1, Baylor College of Medicine
• Allele ID: MGI:1857208
• Summary: 18 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Itgb2^tm1Bay/Itgb2^tm1Bay	B6.129S7-Itgb2^tm1Bay/J	MGI:3766729
hm2	Itgb2^tm1Bay/Itgb2^tm1Bay	involves: 129S7/SvEvBrd	MGI:2651379
hm3	Itgb2^tm1Bay/Itgb2^tm1Bay	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3583131
hm4	Itgb2^tm1Bay/Itgb2^tm1Bay	involves: 129S7/SvEvBrd * C57BL/6J * PL/J	MGI:3583142
hm5	Itgb2^tm1Bay/Itgb2^tm1Bay	involves: 129S7/SvEvBrd * PL/J	MGI:2651381
hm6	Ptpn6^me-v/Ptpn6^me-v	involves: 129S7/SvEvBrd * C57BL/6J	MGI:6383230
ht7	Itgb2^tm1Bay/Itgb2^tm2Bay	B6.129S7-Itgb2^tm1Bay Itgb2^tm2Bay	MGI:3590494
ht8	Itgb2^tm1Bay/Itgb2^tm2Bay	involves: 129S7/SvEvBrd * C57BL/6J * PL/J	MGI:3590487
ht9	Itgb2^tm1Bay/Itgb2^tm2Bay	PL.129S7-Itgb2^tm1Bay Itgb2^tm2Bay	MGI:3590415
cx10	Itgb2^tm1Bay/Itgb2^tm1Bay Psrs1^PL/J/Psrs1^PL/J	B6.Cg-(D10Mit126-D10Mit38) Itgb2^tm1Bay	MGI:3790701
cx11	Itgb2^tm1Bay/Itgb2^tm1Bay Psrs1^PL/J/Psrs1^PL/J	B6.Cg-(D10Mit75-D10Mit271) Itgb2^tm1Bay	MGI:3790702
cx12	Itgb2^tm1Bay/? Psrs7^PL/J/?	involves: 129S7/SvEvBrd * C57BL/6J * PL/J	MGI:3697188
cx13	Itgb2^tm1Bay/? Psrs5^PL/J/?	involves: 129S7/SvEvBrd * C57BL/6J * PL/J	MGI:3697186
cx14	Itgb2^tm1Bay/? Psrs2^PL/J/?	involves: 129S7/SvEvBrd * C57BL/6J * PL/J	MGI:3697183
cx15	Itgb2^tm1Bay/? Psrs1^PL/J/?	involves: 129S7/SvEvBrd * C57BL/6J * PL/J	MGI:3697182
cx16	Itgb2^tm1Bay/? Psrs3^PL/J/?	involves: 129S7/SvEvBrd * C57BL/6J * PL/J	MGI:3697184
cx17	Itgb2^tm1Bay/? Psrs4^PL/J/Psrs4^PL/J Psrs6^PL/J/Psrs6^PL/J	involves: C57BL/6J * PL/J	MGI:3697187
cx18	Itgb2^tm1Bay/? Psrs4^PL/J/?	involves: C57BL/6J * PL/J	MGI:3697185

Genotype
MGI:3766729

hm1

• Allelic Composition: Itgb2^tm1Bay/Itgb2^tm1Bay
• Genetic Background: B6.129S7-Itgb2^tm1Bay/J

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

mortality/aging

premature death ( J:118466 )

• mutants and wild-type mice treated with streptozotocin to induce diabetes display significantly increased mortality after 12 months of disease compared to untreated controls

vision/eye

decreased susceptibility to induced choroidal neovascularization ( J:119416 )

• at 2 weeks after laser injury, volume of choroidal neovascularization (CNV) is reducedby ~67.0% compared to wild-type mice

• mutants have markedly smaller CNV membranes 2 weeks after injury compared to wild-type

abnormal retina morphology ( J:118466 , J:119416 )

• in the galactose- and streptozotocin-induced diabetes models, after 11 months, mutants have fewer adherent leukocytes in the retina compared to diabetic controls; number of adherent leukocytes in the retina in 11-month diabetic mutants does not differ from number in non-diabetic controls (J:118466)

• diabetic wild-type mice at 11 months of disease have a 3.1-fold increase in adherent leukocyte number compared with non-diabetic controls (J:118466)

• compared to diabetic wild-type controls, number of endothelial cells in diabetic mutants are higher and comparable to non-diabetic wild-type controls (J:118466)

• 11-month diabetic wild-type mice have 3.8-fold more acellular capillaries compared to non-diabetic controls; in diabetic mutants, this pathology is suppressed by 60% with number of acellular capillaries similar to that in non-diabetic wild-type controls (J:118466)

• at 11 months, numbers of normal appearing pericytes in retinas of diabetic mutants are significantly greater than number in diabetic wild-type controls (J:118466)

• at 22 months, galactosemic mutants show almost no endothelial cell loss, no pericyte loss, and less acellular capillary formation (by 60%) than galactosemic wild-type controls compared to euglycemic wild-type mice (J:118466)

• no basement membrane thickening is observed in diabetic and galactosemic mutants compared to that observed in diabetic and galactosemic wild-type controls (J:118466)

• following laser photocoagulation (1,2, and 4 weeks after), significantly less pathologically significant leakage (fewer grade-2B lesions) develops in mutants compared to wild-type (J:119416)

• less mice have 3 or more grade-2B lesions in each eye compared with wild-type (J:119416)

abnormal retina vasculature morphology ( J:118466 )

• in diabetes models, mutants exhibit decreased retinal-blood barrier breakdown compared to diabetic controls at 11 months

abnormal eye physiology ( J:118466 )

• in the diabetes models, 11-month diabetic mutants have decreased numbers of injured endothelial cells (<5%) compared to diabetic wild-type controls

homeostasis/metabolism

increased circulating glucose level ( J:118466 )

• blood glucose levels are significantly increased in mutants and controls with streptozotocin treatment or high galactose diet

cardiovascular system

decreased susceptibility to induced choroidal neovascularization ( J:119416 )

• at 2 weeks after laser injury, volume of choroidal neovascularization (CNV) is reducedby ~67.0% compared to wild-type mice

• mutants have markedly smaller CNV membranes 2 weeks after injury compared to wild-type

abnormal retina vasculature morphology ( J:118466 )

• in diabetes models, mutants exhibit decreased retinal-blood barrier breakdown compared to diabetic controls at 11 months

Genotype
MGI:2651379

hm2

• Allelic Composition: Itgb2^tm1Bay/Itgb2^tm1Bay
• Genetic Background: involves: 129S7/SvEvBrd

immune system

increased leukocyte cell number ( J:13599 , J:32126 )

• Background Sensitivity: increased total leukocyte counts however less elevated than on the PL/J background (J:32126)

increased granulocyte number ( J:13599 )

increased lymphocyte cell number ( J:13599 )

decreased inflammatory response ( J:13599 )

• decreased inflammatory response to i.p. injection of thioglycollate showing decreased migration of neutrophils into the peritoneal cavity

• delayed rejection of cardiac transplants

hematopoietic system

increased leukocyte cell number ( J:13599 , J:32126 )

• Background Sensitivity: increased total leukocyte counts however less elevated than on the PL/J background (J:32126)

increased granulocyte number ( J:13599 )

increased lymphocyte cell number ( J:13599 )

integument

integument phenotype ( J:32126 )

N • Background Sensitivity: did not develop progressive dermatitis in the 129S7/SvEvBrd background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
leukocyte adhesion deficiency 1		DOID:0110910	OMIM:116920	J:13599

Genotype
MGI:3583131

hm3

• Allelic Composition: Itgb2^tm1Bay/Itgb2^tm1Bay
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

immune system

myeloid hyperplasia ( J:13599 )

• myeloid hyperplasia in bone marrow

abnormal spleen red pulp morphology ( J:13599 )

• myeloid hyperplasia of splenic red pulp

hematopoietic system

myeloid hyperplasia ( J:13599 )

• myeloid hyperplasia in bone marrow

abnormal spleen red pulp morphology ( J:13599 )

• myeloid hyperplasia of splenic red pulp

integument

integument phenotype ( J:32126 )

N • Background Sensitivity: did not develop progressive dermatitis in the C57BL/6J background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
leukocyte adhesion deficiency 1		DOID:0110910	OMIM:116920	J:13599

Genotype
MGI:3583142

hm4

• Allelic Composition: Itgb2^tm1Bay/Itgb2^tm1Bay
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * PL/J

immune system

dermatitis ( J:84126 )

• Background Sensitivity: 23.5% of the F2 progeny from a PL/J x C57BL/6J intercross develop psoriasiform dermatitis, which is not observed on a 129S7/SvEvBrd or a mixed 129S7/SvEvBrd and C57BL/6J background

integument

integument phenotype ( J:32126 , J:84126 )

N • Background Sensitivity: F1 mice from intercrosses of homozygotes on PL/J and C57BL/6J backgrounds did not develop progressive dermatitis, however when F1 mice were backcrossed to homozygotes on the PL/J background, 50% developed dermatitis (J:32126)

N (J:84126)

dermatitis ( J:84126 )

• Background Sensitivity: 23.5% of the F2 progeny from a PL/J x C57BL/6J intercross develop psoriasiform dermatitis, which is not observed on a 129S7/SvEvBrd or a mixed 129S7/SvEvBrd and C57BL/6J background

alopecia ( J:84126 )

• approximately half of affected F2 mice develop severe disease with various degrees of alopecia

reddish skin ( J:84126 )

• Background Sensitivity: approximately half of affected F2 mice develop only mild disease with erythema and/or dry skin, which is not observed on a 129S7/SvEvBrd or a mixed 129S7/SvEvBrd and C57BL/6J background

psoriasis ( J:84126 )

• 23.5% of the F2 progeny from a PL/J x C57BL/6J intercross develop chronic inflammatory skin disease with highly variable severity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
psoriasis		DOID:8893	OMIM:PS177900	J:32126 , J:84126

Genotype
MGI:2651381

hm5

• Allelic Composition: Itgb2^tm1Bay/Itgb2^tm1Bay
• Genetic Background: involves: 129S7/SvEvBrd * PL/J

Clinical features and histopathology of psoriasiform skin disease in Itgb2^tm1Bay/Itgb2^tm1Bay mice

immune system

myeloid hyperplasia ( J:32126 )

• exhibited myeloid hyperplasia in the bone marrow

increased leukocyte cell number ( J:32126 )

• Background Sensitivity: numbers of white blood cells were increased to a higher extent than on a 129S7/SvEvBrd background

increased basophil cell number ( J:32126 )

increased eosinophil cell number ( J:32126 )

increased neutrophil cell number ( J:32126 )

increased lymphocyte cell number ( J:32126 )

increased T cell number ( J:109598 )

• number of CD4+ and CD8+ T cells is highly increased in the epidermis and dermis

increased T-helper 1 cell number ( J:109598 )

• increase in Th1-type cytokine-producing CD4+ T cells but not in Th2-type cytokine producing T cells

increased monocyte cell number ( J:32126 )

abnormal spleen morphology ( J:32126 )

• exhibited myeloid hyperplasia in the spleen

abnormal T cell activation ( J:109598 )

• mice show increased state of activation in CD4+ T cells

abnormal cytokine level ( J:109598 )

• increase in Th1 cytokines, IFN-gamma, IL-2, and IL-10, in T cells from skin lesion-draining lymph nodes

enlarged lymph nodes ( J:32126 )

• displayed reactive lymphadenopathy

increased interferon-gamma secretion ( J:109598 )

• CD90+ T cells release up to 40-fold higher concentrations of IFN-gamma when cultured with anti-CD3 and anti-CD28 antibodies

dermatitis ( J:32126 , J:109598 )

• developed a progressive dermatitis, characterized by erythema, alopecia, and scale and crust formation (J:32126)

• mice develop psoriasiform dermatitis (J:109598)

• depletion of CD4+ T cells, but not of CD8+ T cells, with depleting antibodies results in resolution of the psoriasiform dermatitis after 6 weeks of treatment (J:109598)

hematopoietic system

myeloid hyperplasia ( J:32126 )

• exhibited myeloid hyperplasia in the bone marrow

thrombocytosis ( J:32126 )

increased leukocyte cell number ( J:32126 )

• Background Sensitivity: numbers of white blood cells were increased to a higher extent than on a 129S7/SvEvBrd background

increased basophil cell number ( J:32126 )

increased eosinophil cell number ( J:32126 )

increased neutrophil cell number ( J:32126 )

increased lymphocyte cell number ( J:32126 )

increased T cell number ( J:109598 )

• number of CD4+ and CD8+ T cells is highly increased in the epidermis and dermis

increased T-helper 1 cell number ( J:109598 )

• increase in Th1-type cytokine-producing CD4+ T cells but not in Th2-type cytokine producing T cells

increased monocyte cell number ( J:32126 )

abnormal spleen morphology ( J:32126 )

• exhibited myeloid hyperplasia in the spleen

abnormal T cell activation ( J:109598 )

• mice show increased state of activation in CD4+ T cells

pigmentation

pigmentation phenotype ( J:32126 )

N • Background Sensitivity: associated phenotype appears on the PL/J background but not on a C57BL/6 or 129S7/SvEvBrd background

integument

integument phenotype ( J:32126 )

N • Background Sensitivity: associated phenotypes appear on the PL/J background but not on a C57BL/6 or 129S7/SvEvBrd background

dermatitis ( J:32126 , J:109598 )

• developed a progressive dermatitis, characterized by erythema, alopecia, and scale and crust formation (J:32126)

• mice develop psoriasiform dermatitis (J:109598)

• depletion of CD4+ T cells, but not of CD8+ T cells, with depleting antibodies results in resolution of the psoriasiform dermatitis after 6 weeks of treatment (J:109598)

alopecia ( J:32126 , J:109598 )

• progressively developed in the facial region and/or base of the tail (J:32126)

abnormal hair follicle dermal papilla morphology ( J:32126 )

• vessels within the dermal papillae were dilated

abnormal dermal layer morphology ( J:32126 )

• dermal collagen appeared disorganized

mixed cellular infiltration to dermis ( J:32126 )

• progressive dermatitis with a dermal infiltrate consisting of granulocytes, lymphocytes, histiocytes and scattered mast cells

abnormal epidermal layer morphology ( J:32126 )

• occasionally developed focal spongiosis and erosion of the epidermis

orthokeratosis ( J:32126 )

• skin exhibited orthohyperkeratosis

parakeratosis ( J:32126 )

epidermal hyperplasia ( J:32126 )

• irregular psoriasiform hyperplasia of the epidermis

reddish skin ( J:32126 )

• dermatitis was characterized by erythema

scaly skin ( J:32126 , J:109598 )

• severely affected mice developed scales and crusts in the dorsum of the trunk, the abdomen, and the neck (J:32126)

abnormal skin condition ( J:32126 )

psoriasis ( J:32126 , J:109598 )

• had irregular psoriasiform hyperplasia of the epidermis and subcorneal microabscesses (J:32126)

• mice develop psoriasiform dermatitis (J:109598)

homeostasis/metabolism

abnormal cytokine level ( J:109598 )

• increase in Th1 cytokines, IFN-gamma, IL-2, and IL-10, in T cells from skin lesion-draining lymph nodes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
psoriasis		DOID:8893	OMIM:PS177900	J:32126 , J:109598

Genotype
MGI:6383230

hm6

• Allelic Composition: Ptpn6^me-v/Ptpn6^me-v
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

nervous system

decreased retina photoreceptor cell number ( J:108375 )

retina photoreceptor degeneration ( J:108375 )

vision/eye

decreased retina photoreceptor cell number ( J:108375 )

retina photoreceptor degeneration ( J:108375 )

Genotype
MGI:3590494

ht7

• Allelic Composition: Itgb2^tm1Bay/Itgb2^tm2Bay
• Genetic Background: B6.129S7-Itgb2^tm1Bay Itgb2^tm2Bay

integument

integument phenotype ( J:84126 )

N • Background Sensitivity: compound heterozygotes do not develop chronic inflammatory skin disease like on the PL/J or mixed 129S7/SvEvBrd, C57BL/6J and PL/J background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	psoriasis	DOID:8893	OMIM:PS177900	J:84126

Genotype
MGI:3590487

ht8

• Allelic Composition: Itgb2^tm1Bay/Itgb2^tm2Bay
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * PL/J

immune system

dermatitis ( J:84126 )

• Background Sensitivity: mild, predominantly lymphocytic inflammatory cell response located primarily in the superficial dermis and the basal layer of the epidermis

integument

dermatitis ( J:84126 )

• Background Sensitivity: mild, predominantly lymphocytic inflammatory cell response located primarily in the superficial dermis and the basal layer of the epidermis

hyperkeratosis ( J:84126 )

acanthosis ( J:84126 )

abnormal skin condition ( J:84126 )

• Background Sensitivity: compound heterozygous mice develop chronic inflammatory skin disease on the mixed PL/J, 129S7/SvEvBrd, and C57BL/6J background but not on a C57BL/6J background

psoriasis ( J:84126 )

• 40% of (PL/J X C57BL/6J)F1 compound heterozygotes develop mild psoriasifrom dermatitis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
psoriasis		DOID:8893	OMIM:PS177900	J:84126

Genotype
MGI:3590415

ht9

• Allelic Composition: Itgb2^tm1Bay/Itgb2^tm2Bay
• Genetic Background: PL.129S7-Itgb2^tm1Bay Itgb2^tm2Bay

immune system

dermatitis ( J:84126 )

• Background Sensitivity: develop moderate to severe psoriasiform dermatitis on the PL/J background but not on the C57BL/6J background

integument

dermatitis ( J:84126 )

• Background Sensitivity: develop moderate to severe psoriasiform dermatitis on the PL/J background but not on the C57BL/6J background

orthokeratosis ( J:84126 )

parakeratosis ( J:84126 )

acanthosis ( J:84126 )

abnormal skin condition ( J:84126 )

• Background Sensitivity: compound heterozygous mice develop chronic inflammatory skin disease on the PL/J background but not a C57BL/6J background

psoriasis ( J:84126 )

• lesions are multifocal or patchy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
psoriasis		DOID:8893	OMIM:PS177900	J:84126

Genotype
MGI:3790701

cx10

• Allelic Composition: Itgb2^tm1Bay/Itgb2^tm1Bay; Psrs1^PL/J/Psrs1^PL/J
• Genetic Background: B6.Cg-(D10Mit126-D10Mit38) Itgb2^tm1Bay

immune system

rheumatoid arthritis ( J:134251 )

• increased susceptibility to rheumatoid arthritis

• 75% incidence of rheumatoid arthritis at 16 weeks of age

• presence of swelling and erythema at ankle joints and tarsometarasal/metatarsophalangeal paw joints

• presence of inflammatory cell infiltrates in bones

• cartilage damage

skeleton

rheumatoid arthritis ( J:134251 )

• increased susceptibility to rheumatoid arthritis

• 75% incidence of rheumatoid arthritis at 16 weeks of age

• presence of swelling and erythema at ankle joints and tarsometarasal/metatarsophalangeal paw joints

• presence of inflammatory cell infiltrates in bones

• cartilage damage

integument

psoriasis ( J:134251 )

• increased psoriasis susceptibility

• 87.5% incidence of psoriasis at 16 weeks of age

• severe progressive erythema and scale and crust formation on the back skin

• presence of epidermal hyperplasia, hyperorthokeratosis and subcorneal microabscesses

• presence of inflammatory cell infiltration (CD4+ cells and macrophages) in the dermis

Genotype
MGI:3790702

cx11

• Allelic Composition: Itgb2^tm1Bay/Itgb2^tm1Bay; Psrs1^PL/J/Psrs1^PL/J
• Genetic Background: B6.Cg-(D10Mit75-D10Mit271) Itgb2^tm1Bay

immune system

rheumatoid arthritis ( J:134251 )

• increased susceptibility to rheumatoid arthritis

• 78.6% incidence of rheumatoid arthritis at 16 weeks of age

• presence of swelling and erythema at ankle joints and tarsometarasal/metatarsophalangeal paw joints

• presence of inflammatory cell infiltrates in bones

• cartilage damage

skeleton

rheumatoid arthritis ( J:134251 )

• increased susceptibility to rheumatoid arthritis

• 78.6% incidence of rheumatoid arthritis at 16 weeks of age

• presence of swelling and erythema at ankle joints and tarsometarasal/metatarsophalangeal paw joints

• presence of inflammatory cell infiltrates in bones

• cartilage damage

integument

psoriasis ( J:134251 )

• increased psoriasis susceptibility

• 100% incidence of psoriasis at 16 weeks of age

• severe progressive erythema and scale and crust formation on the back skin

• presence of epidermal hyperplasia, hyperorthokeratosis and subcorneal microabscesses

• presence of inflammatory cell infiltration (CD4+ cells and macrophages) in the dermis

Genotype
MGI:3697188

cx12

• Allelic Composition: Itgb2^tm1Bay/?; Psrs7^PL/J/?
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * PL/J

integument

psoriasis ( J:117544 )

• increased psoriasis severity

Genotype
MGI:3697186

cx13

• Allelic Composition: Itgb2^tm1Bay/?; Psrs5^PL/J/?
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * PL/J

integument

psoriasis ( J:117544 )

• increased psoriasis severity

Genotype
MGI:3697183

cx14

• Allelic Composition: Itgb2^tm1Bay/?; Psrs2^PL/J/?
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * PL/J

integument

psoriasis ( J:117544 )

• increased psoriasis susceptibility

• increased psoriasis severity

Genotype
MGI:3697182

cx15

• Allelic Composition: Itgb2^tm1Bay/?; Psrs1^PL/J/?
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * PL/J

integument

psoriasis ( J:117544 )

• earlier psoriasis onset

• increased psoriasis susceptibility

Genotype
MGI:3697184

cx16

• Allelic Composition: Itgb2^tm1Bay/?; Psrs3^PL/J/?
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * PL/J

integument

psoriasis ( J:117544 )

• earlier psoriasis onset

Genotype
MGI:3697187

cx17

• Allelic Composition: Itgb2^tm1Bay/?; Psrs4^PL/J/Psrs4^PL/J; Psrs6^PL/J/Psrs6^PL/J
• Genetic Background: involves: C57BL/6J * PL/J

integument

psoriasis ( J:117544 )

• increased psoriasis susceptibility

Genotype
MGI:3697185

cx18

• Allelic Composition: Itgb2^tm1Bay/?; Psrs4^PL/J/?
• Genetic Background: involves: C57BL/6J * PL/J

integument

psoriasis ( J:117544 )

• increased psoriasis severity