Phenotypes associated with this allele

• Allele Symbol: Slc20a1^tm1Lbek
• Allele Name: targeted mutation 1, Laurent Beck
• Allele ID: MGI:4438612
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc20a1^tm1Lbek/Slc20a1^tm1Lbek	involves: 129S2/SvPas * C57BL/6J	MGI:4438618
ht2	Slc20a1^tm1Lbek/Slc20a1^tm1.2Lbek	involves: 129S2/SvPas * BALB/c * C57BL/6 * C57BL/6J	MGI:4438616
ht3	Slc20a1^tm1Lbek/Slc20a1^tm1.2Lbek	involves: 129S2/SvPas * C57BL/6J	MGI:5474456

Genotype
MGI:4438618

hm1

• Allelic Composition: Slc20a1^tm1Lbek/Slc20a1^tm1Lbek
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Small size, pale coloration and abnormal red blood cell morphology in Slc20a1^tm1Lbek/Slc20a1^tm1Lbek mice

mortality/aging

postnatal lethality, incomplete penetrance ( J:157997 )

• frequency of homozygous pups is further reduced by 2 weeks of age

prenatal lethality, incomplete penetrance ( J:157997 )

• born at lower than expected frequency

hematopoietic system

hematopoietic system phenotype ( J:194198 )

N • red blood cell half-life is normal

abnormal definitive hematopoiesis ( J:194198 )

• in an in vitro hematopoietic progenitor assay, spleen samples produce more granulocyte/macrophages, erythroid cells and immature red blood cells compared with wild-type spleen samples

anemia ( J:157997 , J:194198 )

• mild (J:157997)

hemolytic anemia ( J:157997 )

abnormal erythrocyte morphology ( J:157997 )

• lipid membrane composition shows that monounsaturated fatty acid are increased, whereas polyunsatured fatty acid are decreased

• higher levels of 16:1n-7 and 18:1n-9 and lower levels of 18:0 fatty acids

abnormal erythropoiesis ( J:194198 )

• intermediate impaired fetal erythropoiesis compared with Slc20a1^tm1Lbek/Slc20a1^tm1.2Lbek and wild-type mice

• impaired maturation of ex vitro cultured primary erythroid progenitors

decreased erythrocyte cell number ( J:157997 , J:194198 )

• at 3 weeks of age (J:157997)

decreased hematocrit ( J:157997 )

• at 3 weeks of age

decreased hemoglobin content ( J:157997 , J:194198 )

• at 3 weeks of age (J:157997)

decreased mean corpuscular hemoglobin ( J:157997 )

• at 3 weeks of age

echinocytosis ( J:157997 )

schistocytosis ( J:157997 )

spherocytosis ( J:157997 )

reticulocytosis ( J:157997 )

• at 3 weeks of age

abnormal spleen morphology ( J:194198 )

• enlarged, redder and disorganized

enlarged spleen ( J:194198 )

increased spleen weight ( J:157997 )

homeostasis/metabolism

abnormal fatty acids level ( J:157997 )

• erythrocyte lipid membrane composition shows that monounsaturated fatty acid are increased, whereas polyunsatured fatty acid are decreased

• higher levels of 16:1n-7 and 18:1n-9 and lower levels of 18:0 fatty acids in erythrocyte lipid membranes

growth/size/body

postnatal growth retardation ( J:157997 )

• survivors are growth retarded

enlarged spleen ( J:194198 )

increased spleen weight ( J:157997 )

skeleton

abnormal bone mineralization ( J:157997 )

• impaired mineralization of both long bones and in the cranial vault and portions of the upper facial skeleton in newborns but not at 2 weeks of age

immune system

abnormal spleen morphology ( J:194198 )

• enlarged, redder and disorganized

enlarged spleen ( J:194198 )

increased spleen weight ( J:157997 )

integument

pallor ( J:157997 )

• in newborns

Genotype
MGI:4438616

ht2

• Allelic Composition: Slc20a1^tm1Lbek/Slc20a1^tm1.2Lbek
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * C57BL/6J

Severe anemia with liver abnormalities in Slc20a1^tm1Lbek/Slc20a1^tm1.2Lbek fetuses

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:157997 )

• between E14.5 and E16.5

hematopoietic system

anemia ( J:157997 )

• at E14.5, embryos are severely anemic

increased nucleated erythrocyte cell number ( J:157997 )

• 6.9 fold more nucleated red blood cells

liver/biliary system

liver hypoplasia ( J:157997 )

• at E14.5 but not at E12.5

Genotype
MGI:5474456

ht3

• Allelic Composition: Slc20a1^tm1Lbek/Slc20a1^tm1.2Lbek
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

hematopoietic system

abnormal erythropoiesis ( J:194198 )

• impaired fetal erythropoiesis