About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hbatm1Paz
targeted mutation 1, Chris Paszty
MGI:2450531
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hbatm1Paz/Hbatm1Paz involves: 129S7/SvEvBrd MGI:2450534
ht2
Hbatm1Paz/Hba+ involves: 129S7/SvEvBrd MGI:5309169
cx3
Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbbtm1Tow
Tg(HBA-HBBs)41Paz/0
involves: 129 * Black Swiss * C57BL/6 * DBA/2 * FVB/N MGI:3812468
cx4
Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbbtm1Tow
involves: 129S2/SvPas * 129S7/SvEvBrd MGI:5529819
cx5
Hbatm1Paz/Hba+
Hbbtm1Tow/Hbbtm1Tow
involves: 129S2/SvPas * 129S7/SvEvBrd MGI:5529820
cx6
Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbb+
involves: 129S2/SvPas * 129S7/SvEvBrd MGI:5529821
cx7
Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbbtm1Tow
Tg(HBA-HBBs)41Paz/?
involves: 129S2/SvPas * 129S7/SvEvBrd * Black Swiss * C57BL/6 * DBA/2* FVB/N MGI:3764497


Genotype
MGI:2450534
hm1
Allelic
Composition
Hbatm1Paz/Hbatm1Paz
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbatm1Paz mutation (2 available); any Hba mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• death between E14.5 and E16.5: all homozygotes are dead by E16.5

growth/size/body
• noticeably smaller than littermates at E14.5

hematopoietic system
• presence of large inclusion bodies in red blood cells at E14.5
• decreased mean cell hemoglobin content

homeostasis/metabolism
• hydrops fetalis




Genotype
MGI:5309169
ht2
Allelic
Composition
Hbatm1Paz/Hba+
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbatm1Paz mutation (2 available); any Hba mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype



Genotype
MGI:3812468
cx3
Allelic
Composition
Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbbtm1Tow
Tg(HBA-HBBs)41Paz/0
Genetic
Background
involves: 129 * Black Swiss * C57BL/6 * DBA/2 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbatm1Paz mutation (2 available); any Hba mutation (12 available)
Hbbtm1Tow mutation (1 available); any Hbb mutation (25 available)
Tg(HBA-HBBs)41Paz mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• mice exhibit increased corpus cavernosal smooth muscle relaxation in response to nerve stimulation
• however, treatment with an Adora2b antagonist or PEG-ADA reduces priapic activity
• mice exhibit priapism that is associated with elevated levels of adenosine
• however, treatment with an Adora2b antagonist or PEG-ADA reduces priapic activity

Mouse Models of Human Disease
OMIM ID Ref(s)
Priapism, Familial Idiopathic 176620 J:135978




Genotype
MGI:5529819
cx4
Allelic
Composition
Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbbtm1Tow
Genetic
Background
involves: 129S2/SvPas * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbatm1Paz mutation (2 available); any Hba mutation (12 available)
Hbbtm1Tow mutation (1 available); any Hbb mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are present at E12.5
• no viable mice are present at E11.5
• mice die between E10.5 and E12.5

hematopoietic system
• extreme at E12.5, indicated by pallor and small fetal liver
• a small population of Ter119+ CD71low fetal liver cells unlike in wild-type mice
• primitive erythroblasts at E11.5
• increased nuclear to cytoplasmic ratio, less condensed and granular nucleus and smaller, less basophilic staining cytoplasm
• severely impaired at E12.5
• mice exhibit a block in differentiation at the proerythroblast/basophilic erythroblast stage in fetal liver erythropoiesis compared with wild-type mice

liver/biliary system
• at E12.5
• fetal liver

embryo
• slightly at E12.5
• severely impaired at E12.5
• mice exhibit a block in differentiation at the proerythroblast/basophilic erythroblast stage in fetal liver erythropoiesis compared with wild-type mice

growth/size/body
• slightly at E12.5

integument
• at E12.5




Genotype
MGI:5529820
cx5
Allelic
Composition
Hbatm1Paz/Hba+
Hbbtm1Tow/Hbbtm1Tow
Genetic
Background
involves: 129S2/SvPas * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbatm1Paz mutation (2 available); any Hba mutation (12 available)
Hbbtm1Tow mutation (1 available); any Hbb mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• a small population of Ter119+ CD71low fetal liver cells unlike in wild-type mice
• greater impairment of Ter119+ CD71hi cells than in double homozygotes




Genotype
MGI:5529821
cx6
Allelic
Composition
Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbb+
Genetic
Background
involves: 129S2/SvPas * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbatm1Paz mutation (2 available); any Hba mutation (12 available)
Hbbtm1Tow mutation (1 available); any Hbb mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
N
• mice exhibit normal erythroid development




Genotype
MGI:3764497
cx7
Allelic
Composition
Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbbtm1Tow
Tg(HBA-HBBs)41Paz/?
Genetic
Background
involves: 129S2/SvPas * 129S7/SvEvBrd * Black Swiss * C57BL/6 * DBA/2* FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbatm1Paz mutation (2 available); any Hba mutation (12 available)
Hbbtm1Tow mutation (1 available); any Hbb mutation (25 available)
Tg(HBA-HBBs)41Paz mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• many pups turn purple and die within a few hours of birth, however, mice that survive live to become adults (reaching at least 7 months of age)

hematopoietic system
• congested sinusoidal channels are observed in spleen
• erythrocytes have increased dynamic rigidity
• average hematocrit levels are 65% of control at 3-7 months of age
• erythrocytes contain an excess of alpha globin chain synthesis
• sickle cell shapes are observed at a frequency of 5-10% in oxygenated blood
• reticulocyte counts are elevated at 3-7 months of age
• weight is increased 13-fold as compared to control
• erythrocytes have decreased osmotic fragility

homeostasis/metabolism
• cause of death in some newborn mice
• iron deposits found in the tubular epithelium of the kidney
• iron deposits found in Kupffer cells of liver

cardiovascular system
• congested sinusoidal channels are observed in spleen
• weight is increased 2-fold as compared to control

renal/urinary system
• iron deposits found in the tubular epithelium of the kidney
• weight is increased 2-fold as compared to control

immune system
• congested sinusoidal channels are observed in spleen
• weight is increased 13-fold as compared to control

liver/biliary system
• iron deposits found in Kupffer cells of liver

respiratory system

Mouse Models of Human Disease
OMIM ID Ref(s)
Sickle Cell Anemia 603903 J:44161





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory