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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hbbd3th
beta-thalassemia
MGI:1856047
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hbbd3th/Hbbd3th involves: C57BL/6 * DBA/2J MGI:2450635
hm2
Hbbd3th/Hbbd3th Not Specified MGI:4412014
cx3
Hbbd3th/Hbb+
Tg(LCR-HBA1,LCR-HBB*)1Tow/0
involves: C57BL/6 * DBA/2J * SJL MGI:5510724
cx4
Hbbd3th/Hbb+
Tg(LCR-HBA2,LCR-HBB*)1Cos/0
involves: C57BL/6J * CBA/J * DBA/2J MGI:5509330
cx5
Hbbd3th/Hbbd3th
Tg(LCR-HBA2,LCR-HBB)11Cos/0
involves: FVB/N MGI:4412018
cx6
Hbbd3th/Hbbd3th
Tg(HBB-AR-HBA2,-HBB*)58Rub/0
Tg(LCR-HBA2,LCR-HBB)11Cos/0
involves: FVB/N * Swiss Webster MGI:4412015
cx7
Hbbd3th/Hbb+
Tg(HBB-AR-HBA2,-HBB*)58Rub/0
Tg(LCR-HBA2,LCR-HBB)11Cos/0
involves: FVB/N * Swiss Webster MGI:4412016
cx8
Hbbd3th/Hbbd3th
Tg(HBB-AR-HBA2,-HBB*)58Rub/0
involves: Swiss Webster MGI:4412013


Genotype
MGI:2450635
hm1
Allelic
Composition
Hbbd3th/Hbbd3th
Genetic
Background
involves: C57BL/6 * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbbd3th mutation (4 available); any Hbb mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• although born at normal ratios, 37% die before weaning
• survival from weaning to 5 months of age is normal

hematopoietic system
• RBC counts reduced to around 10.2 x 106/mm3
• around 37%
• reduced hemoglobin
• beta major hemoglobin is absent
• beta minor hemoglobin is elevated to about 24.6%
• beta/alpha hemoglobin ratio is reduced
• variable size of RBCs
• increased numbers of nucleated RBCs
• large numbers of microcytes and cellular debris

reproductive system
• reduced size of litters produced by females

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
beta thalassemia DOID:12241 OMIM:613985
J:7209




Genotype
MGI:4412014
hm2
Allelic
Composition
Hbbd3th/Hbbd3th
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbbd3th mutation (4 available); any Hbb mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system




Genotype
MGI:5510724
cx3
Allelic
Composition
Hbbd3th/Hbb+
Tg(LCR-HBA1,LCR-HBB*)1Tow/0
Genetic
Background
involves: C57BL/6 * DBA/2J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbbd3th mutation (4 available); any Hbb mutation (47 available)
Tg(LCR-HBA1,LCR-HBB*)1Tow mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• spleen is 2-4 times larger than control

hematopoietic system
• spleen is 2-4 times larger than control
• mild anemia
• decreased red blood cell counts
• decreased hemoglobin concentration
• 90% of deoxygenated cells exhibit sickled shapes as compared to 1% of the transgene only mice
• sickled erythrocytes have projections or spicules similar to human sickled cells
• elevated reticulocyte counts

immune system
• spleen is 2-4 times larger than control

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
sickle cell anemia DOID:10923 OMIM:603903
J:127701




Genotype
MGI:5509330
cx4
Allelic
Composition
Hbbd3th/Hbb+
Tg(LCR-HBA2,LCR-HBB*)1Cos/0
Genetic
Background
involves: C57BL/6J * CBA/J * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbbd3th mutation (4 available); any Hbb mutation (47 available)
Tg(LCR-HBA2,LCR-HBB*)1Cos mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• frequency of mice at weaning is dependent on the genotype of the mother and is partly dependent on oxygen affinity of maternal erythrocytes; when hemizygous transgenic males are crossed with homozygous Hbbd3th females, frequency of progeny at weaning is only 9%, while for the reciprocal cross, it is 30% instead of the expected 50% for either cross

growth/size/body
• large spleen in all adults

mortality/aging
• mutants are extremely sensitive to hypoxia, with 9 of 10 mice dying within 90 min of exposure to 8% oxygen
• progeny at weaning is less than expected; when hemizygous transgenic males are crossed with homozygous Hbbd3th females, frequency of progeny at weaning is only 9%, while for the reciprocal cross, it is 30% instead of the expected 50% for either cross

hematopoietic system
• large spleen in all adults
• neonates are slightly more anemic than single Tg(LCR-HBA2,LCR-HBB*)1Cos, showing a 37% reduction in hematocrit
• erythrocytes show abnormal size and shape, with 5-15% of erythrocytes being small and elongated, resembling irreversible sickle cells
• erythrocyte show heterogenous cell density, with a fraction of cells displaying high density
• most erythrocytes become sickled upon deoxygenation
• slight decrease in in adults
• 37% reduction in neonates
• polymerization of hemoglobin occurs faster than in single Tg(LCR-HBA2,LCR-HBB*)1Cos mice
• increase in mean cell hemoglobin concentration
• slight decrease in mean cell volume

homeostasis/metabolism
• mutants are extremely sensitive to hypoxia, with 9 of 10 mice dying within 90 min of exposure to 8% oxygen

immune system
• large spleen in all adults

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
sickle cell anemia DOID:10923 OMIM:603903
J:94193




Genotype
MGI:4412018
cx5
Allelic
Composition
Hbbd3th/Hbbd3th
Tg(LCR-HBA2,LCR-HBB)11Cos/0
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbbd3th mutation (4 available); any Hbb mutation (47 available)
Tg(LCR-HBA2,LCR-HBB)11Cos mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• under deoxygenated conditions, more than 39% of cells sickle in less than 50 seconds unlike wild-type cells
• in mice older than 30 days




Genotype
MGI:4412015
cx6
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 (47 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




Genotype
MGI:4412016
cx7
Allelic
Composition
Hbbd3th/Hbb+
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 (47 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
homeostasis/metabolism
• after 7 hours of water deprivation, mice exhibit a reduced capacity to concentrate urine compared with similarly treated wild-type mice

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

hematopoietic system
• mice exhibit neonatal anemia
• under deoxygenated conditions, more than 17% of cells sickle in less than 50 seconds unlike wild-type cells

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




Genotype
MGI:4412013
cx8
Allelic
Composition
Hbbd3th/Hbbd3th
Tg(HBB-AR-HBA2,-HBB*)58Rub/0
Genetic
Background
involves: Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbbd3th mutation (4 available); any Hbb mutation (47 available)
Tg(HBB-AR-HBA2,-HBB*)58Rub mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
N
• unlike Hbbd3th homozygotes, mice do not exhibit anemia and exhibit normal mean corpuscular volume, hematocrit, and reticulocyte content under normal conditions
• 30% of red blood cells subjected to deoxygenation exhibit sickling unlike similarly treated wild-type or Hbbd3th homozygous cells
• under hypoxic conditions, cell volume distribution is broader than in similarly treated wild-type cells





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
06/23/2022
MGI 6.20
The Jackson Laboratory