Phenotypes associated with this allele

• Allele Symbol: Slc20a1^tm1.2Lbek
• Allele Name: targeted mutation 1.2, Laurent Beck
• Allele ID: MGI:4438614
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc20a1^tm1.2Lbek/Slc20a1^tm1.2Lbek	involves: 129S2/SvPas * BALB/c * C57BL/6 * C57BL/6J	MGI:4438617
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:4438617

hm1

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

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

Defective liver development and anemia in Slc20a1^tm1.2Lbek/Slc20a1^tm1.2Lbek embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:157997 )

• no embryos are detected after E12.5

embryo

embryonic growth retardation ( J:157997 )

• at E10.5 embryos are slightly growth retarded

• growth retardation is more severe at E12.5

pale placenta ( J:157997 )

growth/size/body

embryonic growth retardation ( J:157997 )

• at E10.5 embryos are slightly growth retarded

• growth retardation is more severe at E12.5

hematopoietic system

decreased common myeloid progenitor cell number ( J:157997 )

• CFU-GM reduced 74 fold and CFU-GEMM reduced 46 fold by absolute number but no difference is detected when presented as proportion of nucleated liver cells

abnormal erythropoiesis ( J:157997 )

• increase in erythrocyte size and higher proportion of fetal forms of hemoglobin indicates a defect in the switch from embryonic to adult hematopoiesis

anemia ( J:157997 )

• at E12.5, profound anemia

decreased erythroid progenitor cell number ( J:157997 )

• CFU-E and BFU-E numbers are reduced 48 and 90 fold by absolute number but no difference is detected when presented as proportion of nucleated liver cells

liver/biliary system

dilated liver sinusoidal space ( J:157997 )

• visible at E11.5

increased hepatocyte apoptosis ( J:157997 )

• E12.5 livers display abundant fragmented pyknotic nuclei, as well as TUNEL+ and Caspace-3 positive cells

decreased hepatocyte proliferation ( J:157997 )

• in E12.5 livers as measured by BrdU and Ki67

abnormal liver development ( J:157997 )

• disorganized tissue architecture at E12.5

small liver ( J:157997 )

• severely reduced liver size at E12.5

liver hypoplasia ( J:157997 )

• nucleated cell counts represent only 2% of wild-type livers at E12.5

• hypocellularity is detectable at E11.5

pale liver ( J:157997 )

• at E12.5

cardiovascular system

dilated liver sinusoidal space ( J:157997 )

• visible at E11.5

cellular

increased hepatocyte apoptosis ( J:157997 )

• E12.5 livers display abundant fragmented pyknotic nuclei, as well as TUNEL+ and Caspace-3 positive cells

decreased cell proliferation ( J:157997 )

• in MEFs

decreased hepatocyte proliferation ( J:157997 )

• in E12.5 livers as measured by BrdU and Ki67

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