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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ank1RBC2
red blood cell mutant 2
MGI:3844284
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ank1RBC2/Ank1RBC2 involves: 129S1/Sv * BALB/c MGI:3844300
ht2
Ank1RBC2/Ank1+ involves: 129S1/Sv * BALB/c MGI:3844299


Genotype
MGI:3844300
hm1
Allelic
Composition
Ank1RBC2/Ank1RBC2
Genetic
Background
involves: 129S1/Sv * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ank1RBC2 mutation (0 available); any Ank1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the number of live births is less than expected
• fewer than expected mice are present at weaning
• all mice die by 8 weeks of age

hematopoietic system
• severe
• as early as E18.5, mice exhibit red cell fragmentation and membrane blebbing unlike in wild-type mice
• as early as E18.5
• as early as E18.5
• mice exhibit circulating nucleated erythroblasts unlike in wild-type mice
• as early as E18.5
• 6-fold
• erythrocyte half-life is 2 days compared to 32 days in wild-type mice
• mice exhibit an increase in the markers of red cell destruction (bilirubin serum levels and iron overload in the liver) compared to in wild-type mice

homeostasis/metabolism
• 4 times higher than in wild-type mice
• 4-fold higher at 52 days

immune system
• 6-fold

liver/biliary system
• 4-fold higher at 52 days
• in 15% of mice within hours of birth

Mouse Models of Human Disease
OMIM ID Ref(s)
Spherocytosis, Type 1; SPH1 182900 J:148127




Genotype
MGI:3844299
ht2
Allelic
Composition
Ank1RBC2/Ank1+
Genetic
Background
involves: 129S1/Sv * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ank1RBC2 mutation (0 available); any Ank1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• P. chabaudi-infected mice are resistant to malaria infection with increased survival compared with similarly treated wild-type mice

hematopoietic system

immune system
• P. chabaudi-infected mice are resistant to malaria infection with increased survival compared with similarly treated wild-type mice





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory