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Phenotypes Associated with This Genotype
Genotype
MGI:4412015
Allelic
Composition
Hbbd3th/Hbbd3th
Tg(HBB-AR-HBA2,-HBB*)58Rub/0
Tg(LCR-HBA2,LCR-HBB)11Cos/0
Genetic
Background
involves: FVB/N * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbbd3th mutation (4 available); any Hbb mutation (48 available)
Tg(HBB-AR-HBA2,-HBB*)58Rub mutation (1 available)
Tg(LCR-HBA2,LCR-HBB)11Cos mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

mortality/aging
• 20% of mice die by 5 months of age
• fewer than expected mice survive until P10

hematopoietic system
• mice exhibit neonatal anemia
• under deoxygenated conditions, more than 95% of cells sickle in less than 50 seconds and many exhibit profusion of spicules unlike wild-type cells
• delay times for polymerization of hemoglobin are shorter than in Hbbd3th/Hbbd3th Tg(LCR-HBA2,LCR-HBB)11Cos mice
• compared with Hbbd3th/Hbbd3th Tg(LCR-HBA2,LCR-HBB)11Cos mice
• mice exhibit spleen fibrosis unlike wild-type mice
• mice exhibit spleen congestion unlike wild-type mice

homeostasis/metabolism
• after 7 hours of water deprivation, mice exhibit a reduced capacity to concentrate urine compared with similarly treated wild-type mice

cardiovascular system
• mice exhibit dilation of renal afferent vessels unlike wild-type mice
• two younger mice exhibit congestion in the brain unlike wild-type mice
• mice exhibit kidney glomerular congestion unlike wild-type mice
• mice exhibit lung congestion unlike wild-type mice
• mice exhibit spleen congestion unlike wild-type mice
• mice exhibit intra-alveolar hemorrhage unlike wild-type mice

liver/biliary system
• mice exhibit multifocal ischemic infarcts in the liver with dilation of the central vein and a preserved rim of viable cells around the central vein unlike wild-type mice
• older mice exhibit liver scarring and fibrosis with collapsed areas unlike wild-type mice
• in older mice

nervous system
• two younger mice exhibit congestion in the brain, occasional red neurons, and rare pyknotic neurons unlike wild-type mice
• two younger mice exhibit congestion in the brain unlike wild-type mice
• mice exhibit red neurons unlike in wild-type mice

renal/urinary system
• mice exhibit dilation of renal afferent vessels unlike wild-type mice
• mice exhibit kidney glomerular congestion unlike wild-type mice
• after 7 hours of water deprivation, mice exhibit a reduced capacity to concentrate urine compared with similarly treated wild-type mice
• mice exhibit focal fibrosis in the medulla and the cortical-medullary junction unlike wild-type mice
• one mouse exhibits cortical fibrosis

respiratory system
• mice exhibit lung congestion unlike wild-type mice
• mice exhibit intra-alveolar hemorrhage unlike wild-type mice
• in two older mice with some platelet thrombi

immune system
• mice exhibit spleen fibrosis unlike wild-type mice
• mice exhibit spleen congestion unlike wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
sickle cell anemia DOID:10923 OMIM:603903
J:94190


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)
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last database update
05/24/2023
MGI 6.22
The Jackson Laboratory