Phenotypes associated with this allele

• Allele Symbol: Itga2^tm1.1Eck
• Allele Name: targeted mutation 1.1, Beate Eckes
• Allele ID: MGI:2675420
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Itga2^tm1.1Eck/Itga2^tm1.1Eck	B6.129P2-Itga2^tm1.1Eck	MGI:3628616
hm2	Itga2^tm1.1Eck/Itga2^tm1.1Eck	involves: 129P2/OlaHsd	MGI:2675422
ht3	Itga2^tm1.1Eck/Itga2^+	involves: 129P2/OlaHsd	MGI:4420906

Genotype
MGI:3628616

hm1

• Allelic Composition: Itga2^tm1.1Eck/Itga2^tm1.1Eck
• Genetic Background: B6.129P2-Itga2^tm1.1Eck

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

cellular

abnormal cell adhesion ( J:108931 )

• keratinocytes from mutant mice did not adhere to collagen I nor collagen IV in culture

• fibroblast from mutant mice adhere to collagen I or collagen IV in culture

• fibroblast from mutant mice had delayed contraction and abnormal kinetics in execution of mechanical tasks of high complexity in three-dimensional surroundings, such as contracting free-floating collagen gels and developing isometric forces in tethered lattices

Genotype
MGI:2675422

hm2

• Allelic Composition: Itga2^tm1.1Eck/Itga2^tm1.1Eck
• Genetic Background: involves: 129P2/OlaHsd

hematopoietic system

hematopoietic system phenotype ( J:75683 )

N • homozygotes exhibit normal peripheral platelet counts relative to control littermates

abnormal platelet physiology ( J:75683 )

• expression levels of integrin beta1 are decreased by ~30% whereas expression of alpha5 and alpha6 is significantly increased in mutant platelets relative to control platelets

• in contrast, expression levels of integrin beta3, GPVI (activating platelet collagen receptor), or the GPIb-V-IX complex, remain normal

abnormal platelet aggregation ( J:75683 )

• aggregation of mutant platelets in reponse to fibrillar type I collagen is significantly delayed, esp. at low collagen concentrations; however, dose-response and maximum aggregation are similar to those in control platelets

• mutant platelets display normal aggregation in response to induction by the GPVI-specific agonist collagen-related peptide (CRP), ADP or thrombin

decreased platelet aggregation ( J:75683 )

• aggregation of mutant platelets in response to 500 ug/ml of enzymatically digested soluble collagen is essentially abolished, unlike in control platelets where robust aggregation is already evident at 5 ug/ml

• under static conditions, mutant platelets display normal adhesion in reponse to fibrillar collagen; however, blocking the major collagen-binding site on GPVI by JAQ1-Fab fragments abrogates adhesion of mutant platelets, whereas adhesion of control platelets remains relatively unchanged

• under static conditions, mutant platelets fail to adhere to soluble collagen in the presence or absence of JAQ1-Fab fragments, unlike control platelets which adhere in the absence, but not in the presence of JAQ1-Fab fragments

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:75683 )

N • homozygotes are viable, fertile, anatomically normal and display normal tail bleeding times relative to control littermates

abnormal platelet physiology ( J:75683 )

• expression levels of integrin beta1 are decreased by ~30% whereas expression of alpha5 and alpha6 is significantly increased in mutant platelets relative to control platelets

• in contrast, expression levels of integrin beta3, GPVI (activating platelet collagen receptor), or the GPIb-V-IX complex, remain normal

abnormal platelet aggregation ( J:75683 )

• aggregation of mutant platelets in reponse to fibrillar type I collagen is significantly delayed, esp. at low collagen concentrations; however, dose-response and maximum aggregation are similar to those in control platelets

• mutant platelets display normal aggregation in response to induction by the GPVI-specific agonist collagen-related peptide (CRP), ADP or thrombin

decreased platelet aggregation ( J:75683 )

• aggregation of mutant platelets in response to 500 ug/ml of enzymatically digested soluble collagen is essentially abolished, unlike in control platelets where robust aggregation is already evident at 5 ug/ml

• under static conditions, mutant platelets display normal adhesion in reponse to fibrillar collagen; however, blocking the major collagen-binding site on GPVI by JAQ1-Fab fragments abrogates adhesion of mutant platelets, whereas adhesion of control platelets remains relatively unchanged

• under static conditions, mutant platelets fail to adhere to soluble collagen in the presence or absence of JAQ1-Fab fragments, unlike control platelets which adhere in the absence, but not in the presence of JAQ1-Fab fragments

Genotype
MGI:4420906

ht3

• Allelic Composition: Itga2^tm1.1Eck/Itga2⁺
• Genetic Background: involves: 129P2/OlaHsd

hematopoietic system

abnormal platelet physiology ( J:75683 )

• expression levels of integrin beta1 are decreased by ~15% whereas expression of alpha5 and alpha6 is significantly increased in heterozygous mutant platelets relative to control platelets

decreased platelet aggregation ( J:75683 )

• in response to soluble collagen, heterozygous mutant platelets show a ~5-fold right shift of the dose-response curve relative to contol platelets, indicating a partial aggregation defect

• under static conditions, heterozygous mutant platelets display normal adhesion in reponse to fibrillar collagen; however, this adhesion is significantly reduced and delayed in the presence of JAQ1 Fab fragments

• under static conditions, heterozygous mutant platelets display a reduced and delayed adhesion to soluble collagen in the absence of JAQ1-Fab fragments

homeostasis/metabolism

abnormal platelet physiology ( J:75683 )

• expression levels of integrin beta1 are decreased by ~15% whereas expression of alpha5 and alpha6 is significantly increased in heterozygous mutant platelets relative to control platelets

decreased platelet aggregation ( J:75683 )

• in response to soluble collagen, heterozygous mutant platelets show a ~5-fold right shift of the dose-response curve relative to contol platelets, indicating a partial aggregation defect

• under static conditions, heterozygous mutant platelets display normal adhesion in reponse to fibrillar collagen; however, this adhesion is significantly reduced and delayed in the presence of JAQ1 Fab fragments

• under static conditions, heterozygous mutant platelets display a reduced and delayed adhesion to soluble collagen in the absence of JAQ1-Fab fragments