All Phenotypes Slc12a4<Rbc10> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc12a4^Rbc10/Slc12a4^Rbc10	involves: BALB/c * C57BL/6J	MGI:5896633
ht2	Slc12a4^Rbc10/Slc12a4⁺	involves: BALB/c * C57BL/6J	MGI:5896634
cx3	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^{tm2(HBG1,HBB)Tow}/Hbb^{tm2(HBG1,HBB)Tow} Slc12a4^Rbc10/Slc12a4^Rbc10	involves: 129 * BALB/c * C57BL/6J	MGI:5896636
cx4	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^{tm2(HBG1,HBB)Tow}/Hbb^{tm2(HBG1,HBB)Tow} Slc12a4^Rbc10/Slc12a4⁺	involves: 129 * BALB/c * C57BL/6J	MGI:5896637
cx5	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^{tm2(HBG1,HBB*)Tow}/Hbb^{tm3(HBG1,HBB)Tow} Slc12a4^Rbc10/Slc12a4^Rbc10	involves: 129 * BALB/c * C57BL/6J	MGI:5896638

Allelic Composition	Slc12a4^Rbc10/Slc12a4^Rbc10
Genetic Background	involves: BALB/c * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a4^Rbc10 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

hypochromic anemia ( J:227339 )

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

Allelic Composition	Slc12a4^Rbc10/Slc12a4⁺
Genetic Background	involves: BALB/c * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a4^Rbc10 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

Allelic Composition	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^{tm2(HBG1,HBB)Tow}/Hbb^{tm2(HBG1,HBB)Tow} Slc12a4^Rbc10/Slc12a4^Rbc10
Genetic Background	involves: 129 * BALB/c * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hba^tm1(HBA)Tow mutation (3 available); any Hba mutation (10 available)
Hbb^{tm2(HBG1,HBB*)Tow} mutation (3 available); any Hbb mutation (47 available)
Slc12a4^Rbc10 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

♀	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

hepatic necrosis ( J:227339 )

• centrilobular necrosis and congestion

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	OMIM:603903	J:227339

Allelic Composition	Hba^tm1(HBA)Tow/Hba^tm1(HBA)Tow Hbb^{tm2(HBG1,HBB*)Tow}/Hbb^{tm3(HBG1,HBB)Tow} Slc12a4^Rbc10/Slc12a4^Rbc10
Genetic Background	involves: 129 * BALB/c * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hba^tm1(HBA)Tow mutation (3 available); any Hba mutation (10 available)
Hbb^{tm2(HBG1,HBB*)Tow} mutation (3 available); any Hbb mutation (47 available)
Hbb^{tm3(HBG1,HBB)Tow} mutation (3 available); any Hbb mutation (47 available)
Slc12a4^Rbc10 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/09/2024 MGI 6.23