Mouse Genome Informatics
hm1
    Hbatm1Paz/Hbatm1Paz
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• death between E14.5 and E16.5: all homozygotes are dead by E16.5

growth/size
• 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


Mouse Genome Informatics
ht2
    Hbatm1Paz/Hba+
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system


Mouse Genome Informatics
cx3
    Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbbtm1Tow
Tg(HBA-HBBs)41Paz/0

involves: 129 * Black Swiss * C57BL/6 * DBA/2 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• mice exhibit increased corpus cavernosal smooth muscle relaxation in response to nerve stimulation (J:135978)
• however, treatment with an Adora2b antagonist or PEG-ADA reduces priapic activity (J:135978)
• mice exhibit priapism that is associated with elevated levels of adenosine (J:135978)
• however, treatment with an Adora2b antagonist or PEG-ADA reduces priapic activity (J:135978)

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


Mouse Genome Informatics
cx4
    Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbbtm1Tow

involves: 129S2/SvPas * 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 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
• increased nuclear to cytoplasmic ratio, less condensed and granular nucleus and smaller, less basophilic staining cytoplasm
• primitive erythroblasts at E11.5
• a small population of Ter119+ CD71low fetal liver cells unlike in wild-type mice
• extreme at E12.5, indicated by pallor and small fetal liver

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

embryogenesis
• 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
• increased nuclear to cytoplasmic ratio, less condensed and granular nucleus and smaller, less basophilic staining cytoplasm

growth/size
• slightly at E12.5

integument
• at E12.5


Mouse Genome Informatics
cx5
    Hbatm1Paz/Hba+
Hbbtm1Tow/Hbbtm1Tow

involves: 129S2/SvPas * 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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


Mouse Genome Informatics
cx6
    Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbb+

involves: 129S2/SvPas * 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
N
• mice exhibit normal erythroid development (J:204029)


Mouse Genome Informatics
cx7
    Hbatm1Paz/Hbatm1Paz
Hbbtm1Tow/Hbbtm1Tow
Tg(HBA-HBBs)41Paz/?

involves: 129S2/SvPas * 129S7/SvEvBrd * Black Swiss * C57BL/6 * DBA/2* FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Sickle Cell Anemia 603903 J:44161