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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Slc12a4Rbc10
red blood cell mutant 10
MGI:5703920
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Slc12a4Rbc10/Slc12a4Rbc10 involves: BALB/c * C57BL/6J MGI:5896633
ht2
 		Slc12a4Rbc10/Slc12a4+ involves: BALB/c * C57BL/6J MGI:5896634
cx3
 		Hbatm1(HBA)Tow/Hbatm1(HBA)Tow
Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow
Slc12a4Rbc10/Slc12a4Rbc10 		involves: 129 * BALB/c * C57BL/6J MGI:5896636
cx4
 		Hbatm1(HBA)Tow/Hbatm1(HBA)Tow
Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow
Slc12a4Rbc10/Slc12a4+ 		involves: 129 * BALB/c * C57BL/6J MGI:5896637
cx5
 		Hbatm1(HBA)Tow/Hbatm1(HBA)Tow
Hbbtm2(HBG1,HBB*)Tow/Hbbtm3(HBG1,HBB)Tow
Slc12a4Rbc10/Slc12a4Rbc10 		involves: 129 * BALB/c * C57BL/6J MGI:5896638


Genotype
MGI:5896633
hm1
Allelic
Composition		 Slc12a4Rbc10/Slc12a4Rbc10
Genetic
Background		 involves: BALB/c * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a4Rbc10 mutation (1 available); any Slc12a4 mutation (55 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
hematopoietic system phenotype ( J:227339 )
N
• normal serum ferritin
microcytosis ( J:227339 )
• markedly reduced mean cell volume
• phenotype is more severe than in heterozygous mice
abnormal erythrocyte physiology ( J:227339 )
• reduced salt induced lysis
• reduction is greater than in heterozygous mice
• increase in red cell density
• display a two-fold increase in 86Rb efflux under isotonic conditions




Genotype
MGI:5896634
ht2
Allelic
Composition		 Slc12a4Rbc10/Slc12a4+
Genetic
Background		 involves: BALB/c * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a4Rbc10 mutation (1 available); any Slc12a4 mutation (55 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
microcytosis ( J:227339 )
• Background Sensitivity: phenotype becomes less severe when backcrossed onto a C57BL/6J mice
abnormal erythrocyte physiology ( J:227339 )
• reduced salt induced lysis
• increase in 86Rb efflux under isotonic conditions




Genotype
MGI:5896636
cx3
Allelic
Composition		 Hbatm1(HBA)Tow/Hbatm1(HBA)Tow
Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow
Slc12a4Rbc10/Slc12a4Rbc10
Genetic
Background		 involves: 129 * BALB/c * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbatm1(HBA)Tow mutation (3 available); any Hba mutation (10 available)
Hbbtm2(HBG1,HBB*)Tow mutation (3 available); any Hbb mutation (47 available)
Slc12a4Rbc10 mutation (1 available); any Slc12a4 mutation (55 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:227339 )
• only 1 mouse survived to 10 weeks of age
preweaning lethality, incomplete penetrance ( J:227339 )
• fewer than expected at 10 days of age




Genotype
MGI:5896637
cx4
Allelic
Composition		 Hbatm1(HBA)Tow/Hbatm1(HBA)Tow
Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow
Slc12a4Rbc10/Slc12a4+
Genetic
Background		 involves: 129 * BALB/c * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbatm1(HBA)Tow mutation (3 available); any Hba mutation (10 available)
Hbbtm2(HBG1,HBB*)Tow mutation (3 available); any Hbb mutation (47 available)
Slc12a4Rbc10 mutation (1 available); any Slc12a4 mutation (55 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:227339 )
• decreased survival compared to sickle mice wild-type for Slc12a4

hematopoietic system
enlarged spleen ( J:227339 )
• compared to sickle mice wild-type for Slc12a4
microcytic anemia ( J:227339 )
• increased anemia compared to mutant mice wild-type for Slc12a4
reticulocytosis ( J:227339 )
• increased compared to sickle mice wild-type for Slc12a4
abnormal erythrocyte physiology ( J:227339 )
• increase in 86Rb efflux
• increased red cell density

liver/biliary system
liver inflammation ( J:227339 )
• marked lobular inflammation
abnormal liver morphology ( J:227339 )
• numerous sickle cells are seen in the sinusoids
hepatic necrosis ( J:227339 )
• centrilobular necrosis and congestion

cardiovascular system
abnormal pulmonary circulation ( J:227339 )
• increased intra-alveolar leakage of red cells

renal/urinary system
increased mesangial cell number ( J:227339 )
• mesangial proliferation
abnormal renal tubule morphology ( J:227339 )
• increase in the number of red cells in the tubules

respiratory system
abnormal pulmonary circulation ( J:227339 )
• increased intra-alveolar leakage of red cells
abnormal lung morphology ( J:227339 )
• increased interstitial congestion

immune system
enlarged spleen ( J:227339 )
• compared to sickle mice wild-type for Slc12a4
liver inflammation ( J:227339 )
• marked lobular inflammation

cellular
increased mesangial cell number ( J:227339 )
• mesangial proliferation

growth/size/body
enlarged spleen ( J:227339 )
• compared to sickle mice wild-type for Slc12a4

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
sickle cell anemia DOID:10923 J:227339




Genotype
MGI:5896638
cx5
Allelic
Composition		 Hbatm1(HBA)Tow/Hbatm1(HBA)Tow
Hbbtm2(HBG1,HBB*)Tow/Hbbtm3(HBG1,HBB)Tow
Slc12a4Rbc10/Slc12a4Rbc10
Genetic
Background		 involves: 129 * BALB/c * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbatm1(HBA)Tow mutation (3 available); any Hba mutation (10 available)
Hbbtm2(HBG1,HBB*)Tow mutation (3 available); any Hbb mutation (47 available)
Hbbtm3(HBG1,HBB)Tow mutation (3 available); any Hbb mutation (47 available)
Slc12a4Rbc10 mutation (1 available); any Slc12a4 mutation (55 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
microcytic anemia ( J:227339 )
• increased anemia compared to mutant mice wild-type for Slc12a4




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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory