About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fermt3tm1Ref
targeted mutation 1, Reinhard Fassler
MGI:3785479
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fermt3tm1Ref/Fermt3tm1Ref involves: 129S1/Sv * 129X1/SvJ MGI:3795785


Genotype
MGI:3795785
hm1
Allelic
Composition
Fermt3tm1Ref/Fermt3tm1Ref
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fermt3tm1Ref mutation (0 available); any Fermt3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within a week of birth

skeleton
• necropsy reveals mice have pronounced osteopetrosis at the time of death

hematopoietic system
• fewer cells seen in blood smears
• increase in nucleated erythroblasts
• irregular size and shape of erythroblasts
• invaginations and protuberances of the cell membrane are detected by scanning electron microscopy
• platelets fail to bind to injured mesenteric arterioles in lethally irradiated wild-type mice that receive mutant fetal liver cells
• under static conditions, platelets bind to fibrinogen but only form transient lamellipodia and fail to spread over the coated surface during a 45 minute period
• platelets change shape but fail to aggregate in vitro under sheer stress conditions to all stimuli tested including ADP, thrombin, and collagen
• platelets will aggregate on fibrinogen when Mn ions are used to bypass cellular activation of alpha-2bBeta3 integrin

homeostasis/metabolism
• platelets fail to bind to injured mesenteric arterioles in lethally irradiated wild-type mice that receive mutant fetal liver cells
• under static conditions, platelets bind to fibrinogen but only form transient lamellipodia and fail to spread over the coated surface during a 45 minute period
• platelets change shape but fail to aggregate in vitro under sheer stress conditions to all stimuli tested including ADP, thrombin, and collagen
• platelets will aggregate on fibrinogen when Mn ions are used to bypass cellular activation of alpha-2bBeta3 integrin
• platelets fail to form thrombi on injured mesenteric arterioles in lethally irradiated wild-type mice that receive mutant fetal liver cells
• lethally irradiated wild-type mice that receive mutant fetal liver cells fail to stop bleeding within 15 minutes when tails are nicked compared to a mean of 10 minutes for mice that receive wild-type fetal liver cells

digestive/alimentary system
• mice have severe hemorrhages in the gut at the time of death and during development

nervous system
• mice have severe hemorrhages in the brain at the time of death and during development

cardiovascular system
• suffer from severe bleeding
• mice have severe hemorrhages in the bladder at the time of death and during development
• mice have severe hemorrhages in the gut at the time of death and during development
• mice have severe hemorrhages in the brain at the time of death and during development

integument
• hemorrhages occur in the skin of mice at the time of death and during development

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
leukocyte adhesion deficiency 3 DOID:0110912 OMIM:612840
J:146783





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/03/2022
MGI 6.21
The Jackson Laboratory