Phenotypes associated with this allele

• Allele Symbol: Mfsd2b^{tm1a(KOMP)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4362372
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mfsd2b^tm1a(KOMP)Wtsi/Mfsd2b^tm1a(KOMP)Wtsi	B6JTyr;B6N-Mfsd2b^tm1a(KOMP)Wtsi/Wtsi	MGI:5781666
hm2	Mfsd2b^tm1a(KOMP)Wtsi/Mfsd2b^tm1a(KOMP)Wtsi	C57BL/6-Mfsd2b^tm1a(KOMP)Wtsi	MGI:6119780

Genotype
MGI:5781666

hm1

• Allelic Composition: Mfsd2b^{tm1a(KOMP)Wtsi}/Mfsd2b^{tm1a(KOMP)Wtsi}
• Genetic Background: B6JTyr;B6N-Mfsd2b^{tm1a(KOMP)Wtsi}/Wtsi
• Cell Lines: EPD0164_3_H04

Data Sources

IMPC Data for Mfsd2b

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

hematopoietic system

decreased erythrocyte cell number ( J:175295 )

IMPC - WTSI

increased mean corpuscular hemoglobin ( J:175295 )

IMPC - WTSI

homeostasis/metabolism

decreased circulating iron level ( J:175295 )

IMPC - WTSI

Genotype
MGI:6119780

hm2

• Allelic Composition: Mfsd2b^{tm1a(KOMP)Wtsi}/Mfsd2b^{tm1a(KOMP)Wtsi}
• Genetic Background: C57BL/6-Mfsd2b^{tm1a(KOMP)Wtsi}

growth/size/body

enlarged spleen ( J:250123 )

hematopoietic system

hematopoietic system phenotype ( J:250123 )

N • oxygen release capacity of red blood cells

N • deformability of red blood cells

enlarged spleen ( J:250123 )

abnormal stress erythropoiesis ( J:250123 )

• increased anaemia under stress-induced erythropoiesis

decreased erythrocyte cell number ( J:250123 )

abnormal mean corpuscular volume ( J:250123 )

stomatocytosis ( J:250123 )

• with or without 5-fluorouracil (5FU)-treatment

decreased leukocyte cell number ( J:250123 )

decreased B cell number ( J:250123 )

decreased T cell number ( J:250123 )

reticulocytopenia ( J:250123 )

hemolysis ( J:250123 , J:250123 )

• exacerbated by incubation of red blood cells with sphingosine or dihydrosphingosine (J:250123)

♀ • 75% of female mice died after 5-fluorouracil (5FU)-treatment (J:250123)

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:250123 )

N • major membrane phospholipid levels

abnormal ceramide level ( J:250123 )

• slightly increased in red blood cells

• in plasma

decreased sphingosine level ( J:250123 )

• slightly decreased in plasma

• decrease of tritium-labeled sphingosine-1-phosphate (S1P) levels in supernatant when red blood cells were supplied with endogenous tritium-labeled sphingosine in vitro

• decrease of tritium-labeled sphingosine-1-phosphate (S1P) levels in supernatant when red blood cells were supplied with endogenous tritium-labeled S1P in vitro

• significant decrease of tritium-labeled sphingosine-1-phosphate (S1P) levels in supernatant when platelets were supplied with endogenous tritium-labeled sphingosine in vitro

• failure to increase sphingosine-1-phosphate (S1P) export from platelets upon activation

increased sphingosine level ( J:250123 , J:250123 , J:250123 )

• increased in red blood cells (J:250123)

• 60-fold increase of sphingosine-1-phosphate (S1P) levels in red blood cells (J:250123)

• increase of tritium-labeled sphingosine-1-phosphate (S1P) levels in red blood cells when red blood cells were supplied with endogenous tritium-labeled sphingosine in vitro (J:250123)

• additional increase of sphingosine-1-phosphate (S1P) levels in red blood cells after 5-fluorouracil (5FU)-treatment (J:250123)

• increase of tritium-labeled sphingosine-1-phosphate (S1P) levels in red blood cells when red blood cells were supplied with endogenous tritium-labeled S1P in vitro (J:250123)

• dramatic increase of tritium-labeled sphingosine-1-phosphate (S1P) levels in platelets when platelets were supplied with endogenous tritium-labeled sphingosine in vitro (J:250123)

♀ • 50% reduction of plasma sphingosine-1-phosphate (S1P) levels in females (J:250123)

♂ • 42% reduction of plasma sphingosine-1-phosphate (S1P) levels in males (J:250123)

immune system

enlarged spleen ( J:250123 )

decreased leukocyte cell number ( J:250123 )

decreased B cell number ( J:250123 )

decreased T cell number ( J:250123 )

increased susceptibility to type I hypersensitivity reaction ( J:250123 )

• significantly shorter survival of mice subjected to platelet activating factor (PAF) treatment