Phenotypes associated with this allele

• Allele Symbol: Alox12^tm1Fun
• Allele Name: targeted mutation 1, Colin D Funk
• Allele ID: MGI:1932927
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Alox12^tm1Fun/Alox12^tm1Fun	involves: 129S2/SvPas * C57BL/6	MGI:2175696

Genotype
MGI:2175696

hm1

• Allelic Composition: Alox12^tm1Fun/Alox12^tm1Fun
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

homeostasis/metabolism

increased platelet aggregation ( J:46896 )

• platelet adhesion to various extracellular matrix proteins, including fibrinogen, collagen and fibronectin, is normal

• mutant platelets exhibit increased sensitivity to ADP, manifested as a significant increase in slope and percent aggregation in ex vivo assays; platelet hyperresponsiveness to ADP is not secondary to thromboxane synthesis, PKC activity, or dense granule release and can be attenuated by the addition of 12-(S)-hydroperoxyeicosatetraenoic acid to platelet-rich plasma

• thrombin-, collagen-, U46619-, and arachidonic acid-induced aggregation responses are largely unaffected

increased susceptibility to induced thrombosis ( J:46896 )

• homozygotes are more sensitive to thrombosis elicited by i.v. ADP injection: 87.5% of mutants (vs only 20% of wild-type) exhibit thrombolytic death at an ADP dose of 0.035 mg/g (body weight)

• however, no differences in mortality are observed with arachidonic acid-induced thrombosis at 30 mg/kg and 100 mg/kg

impaired skin barrier function ( J:55741 )

• homozygotes exhibit increased transepidermal water loss, without increased basal mitotic activity of epidermal cells, and normal recovery of the epidermal barrier after acetone disruption

• however, epidermis appears structurally normal, with no detectable differences in number or appearance of lamellar bodies and no changes in the content of major fatty acids

hematopoietic system

increased platelet aggregation ( J:46896 )

• platelet adhesion to various extracellular matrix proteins, including fibrinogen, collagen and fibronectin, is normal

• mutant platelets exhibit increased sensitivity to ADP, manifested as a significant increase in slope and percent aggregation in ex vivo assays; platelet hyperresponsiveness to ADP is not secondary to thromboxane synthesis, PKC activity, or dense granule release and can be attenuated by the addition of 12-(S)-hydroperoxyeicosatetraenoic acid to platelet-rich plasma

• thrombin-, collagen-, U46619-, and arachidonic acid-induced aggregation responses are largely unaffected

immune system

immune system phenotype ( J:55741 )

N • homozygotes exhibit a normal arachidonic acid-induced ear inflammatory response, as measured by plasma leakage and edema formation

integument

impaired skin barrier function ( J:55741 )

• homozygotes exhibit increased transepidermal water loss, without increased basal mitotic activity of epidermal cells, and normal recovery of the epidermal barrier after acetone disruption

• however, epidermis appears structurally normal, with no detectable differences in number or appearance of lamellar bodies and no changes in the content of major fatty acids