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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 (10 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
lethality throughout fetal growth and development, complete penetrance ( J:28392 )
• death between E14.5 and E16.5: all homozygotes are dead by E16.5

growth/size/body
decreased fetal size ( J:28392 )
• noticeably smaller than littermates at E14.5

hematopoietic system
abnormal erythrocyte morphology ( J:28392 )
• presence of large inclusion bodies in red blood cells at E14.5
decreased mean corpuscular hemoglobin ( J:28392 )
• decreased mean cell hemoglobin content

homeostasis/metabolism
hydrops fetalis ( J:28392 )
• 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 (10 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system




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 (10 available)
Hbbtm1Tow mutation (1 available); any Hbb mutation (47 available)
Tg(HBA-HBBs)41Paz mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal penile erection ( J:135978 )
• 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
priapism ( J:135978 )
• mice exhibit priapism that is associated with elevated levels of adenosine
• however, treatment with an Adora2b antagonist or PEG-ADA reduces priapic activity




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 (10 available)
Hbbtm1Tow mutation (1 available); any Hbb mutation (47 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality during organogenesis, complete penetrance ( J:204029 )
• 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
microcytic anemia ( J:204029 )
• extreme at E12.5, indicated by pallor and small fetal liver
abnormal erythroid progenitor cell morphology ( J:204029 )
• a small population of Ter119+ CD71low fetal liver cells unlike in wild-type mice
microcytosis ( J:204029 )
• primitive erythroblasts at E11.5
abnormal embryonic erythrocyte morphology ( J:204029 )
• increased nuclear to cytoplasmic ratio, less condensed and granular nucleus and smaller, less basophilic staining cytoplasm
abnormal embryonic erythropoiesis ( J:204029 )
• 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
small liver ( J:204029 )
• at E12.5
liver hypoplasia ( J:204029 )
• fetal liver

embryo
decreased embryo size ( J:204029 )
• slightly at E12.5
abnormal embryonic erythropoiesis ( J:204029 )
• 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
decreased embryo size ( J:204029 )
• slightly at E12.5

integument
pallor ( J:204029 )
• 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 (10 available)
Hbbtm1Tow mutation (1 available); any Hbb mutation (47 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
abnormal erythroid progenitor cell morphology ( J:204029 )
• a small population of Ter119+ CD71low fetal liver cells unlike in wild-type mice
decreased erythroid progenitor cell number ( J:204029 )
• 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 (10 available)
Hbbtm1Tow mutation (1 available); any Hbb mutation (47 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
hematopoietic system phenotype ( J:204029 )
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 (10 available)
Hbbtm1Tow mutation (1 available); any Hbb mutation (47 available)
Tg(HBA-HBBs)41Paz mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, incomplete penetrance ( J:44161 )
• 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)

growth/size/body
increased heart weight ( J:44161 )
• weight is increased 2-fold as compared to control
kidney cyst ( J:44161 )
increased kidney weight ( J:44161 )
• weight is increased 2-fold as compared to control
increased spleen weight ( J:44161 )
• weight is increased 13-fold as compared to control

hematopoietic system
spleen vascular congestion ( J:44161 )
• congested sinusoidal channels are observed in spleen
increased spleen weight ( J:44161 )
• weight is increased 13-fold as compared to control
abnormal erythrocyte morphology ( J:44161 )
• erythrocytes have increased dynamic rigidity
decreased hematocrit ( J:44161 )
• average hematocrit levels are 65% of control at 3-7 months of age
abnormal hemoglobin ( J:44161 )
• erythrocytes contain an excess of alpha globin chain synthesis
anisopoikilocytosis ( J:44161 )
• sickle cell shapes are observed at a frequency of 5-10% in oxygenated blood
reticulocytosis ( J:44161 )
• reticulocyte counts are elevated at 3-7 months of age
decreased erythrocyte osmotic fragility ( J:44161 )
• erythrocytes have decreased osmotic fragility

homeostasis/metabolism
hypoxia ( J:44161 )
• cause of death in some newborn mice
increased kidney iron level ( J:44161 )
• iron deposits found in the tubular epithelium of the kidney
increased liver iron level ( J:44161 )
• iron deposits found in Kupffer cells of liver

cardiovascular system
spleen vascular congestion ( J:44161 )
• congested sinusoidal channels are observed in spleen
increased heart weight ( J:44161 )
• weight is increased 2-fold as compared to control

renal/urinary system
increased kidney weight ( J:44161 )
• weight is increased 2-fold as compared to control
increased kidney iron level ( J:44161 )
• iron deposits found in the tubular epithelium of the kidney

immune system
spleen vascular congestion ( J:44161 )
• congested sinusoidal channels are observed in spleen
increased spleen weight ( J:44161 )
• weight is increased 13-fold as compared to control

liver/biliary system
increased liver iron level ( J:44161 )
• iron deposits found in Kupffer cells of liver

respiratory system

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
sickle cell anemia DOID:10923 J:44161




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11/12/2024
MGI 6.24 		The Jackson Laboratory