Phenotypes associated with this allele

• Allele Symbol: Mfsd1^{tm1a(KOMP)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4939721
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mfsd1^tm1a(KOMP)Wtsi/Mfsd1^tm1a(KOMP)Wtsi	involves: C57BL/6N	MGI:6379236

Genotype
MGI:6379236

hm1

• Allelic Composition: Mfsd1^{tm1a(KOMP)Wtsi}/Mfsd1^{tm1a(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N
• Cell Lines: EPD0728_5_G03

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

growth/size/body

decreased body weight ( J:280713 )

• males and females exhibit reduced body weight at 12 months of age but not at 13 weeks of age

enlarged spleen ( J:280713 )

• approximate 2-fold increase in spleen size at 12 weeks of age

liver/biliary system

abnormal liver morphology ( J:280713 )

• livers of 12 week old, but not younger than 10 weeks of age, mice exhibit a tuberous appearance with uneven surface

abnormal liver vasculature morphology ( J:280713 )

• marker analysis indicates the formation of new capillaries in the liver and a pro-thrombotic status of the liver

abnormal liver sinusoid morphology ( J:280713 )

• ordinary sinusoids are absent due to destroyed sinusoidal epithelium

• platelets are frequently seen and there is an increase in collagen deposition at sites of damaged sinusoids and areas of sinusoidal remodeling

• the extravasal space is enlarged

abnormal liver sinusoidal endothelial cell morphology ( J:280713 )

• mice develop focal liver sinusoid endothelial cell degeneration and these cells are replaced by ordinary capillary endothelium

abnormal liver parenchyma morphology ( J:280713 )

• mild damage of the liver parenchyma

abnormal hepatocyte morphology ( J:280713 )

• livers show local foci with hepatocyte atrophy or loss at 12 weeks of age

• however, no signs of lysosomal storage abnormal lysosomes are seen in hepatocytes and activity of the lysosomal enzymes beta-hexosaminidase, beta-galactosidase, and beta-glucuronidase are not different

abnormal liver perisinusoidal space morphology ( J:280713 )

• the space of Disse (perisinusoidal space) is missing and extravasated platelet aggregation is seen in this space and hepatocytes have direct contact with their microvilli to the blood

increased liver tumor incidence ( J:280713 )

• mice show an increase in liver tumor occurrence in mice over 1.5 years of age

liver fibrosis ( J:280713 )

• moderate liver fibrosis, particularly around the focal spots of parenchymal damage

neoplasm

increased liver tumor incidence ( J:280713 )

• mice show an increase in liver tumor occurrence in mice over 1.5 years of age

cardiovascular system

abnormal liver vasculature morphology ( J:280713 )

• marker analysis indicates the formation of new capillaries in the liver and a pro-thrombotic status of the liver

abnormal liver sinusoid morphology ( J:280713 )

• ordinary sinusoids are absent due to destroyed sinusoidal epithelium

• platelets are frequently seen and there is an increase in collagen deposition at sites of damaged sinusoids and areas of sinusoidal remodeling

• the extravasal space is enlarged

abnormal liver sinusoidal endothelial cell morphology ( J:280713 )

• mice develop focal liver sinusoid endothelial cell degeneration and these cells are replaced by ordinary capillary endothelium

hematopoietic system

enlarged spleen ( J:280713 )

• approximate 2-fold increase in spleen size at 12 weeks of age

homeostasis/metabolism

increased circulating alanine transaminase level ( J:280713 )

increased circulating aspartate transaminase level ( J:280713 )

increased circulating glutamate dehydrogenase level ( J:280713 )

• serum glutamate dehydrogenase levels are elevated

• however, serum lactate dehydrogenase and albumin levels are normal and no difference in amino acids in either serum or urine are seen

immune system

enlarged spleen ( J:280713 )

• approximate 2-fold increase in spleen size at 12 weeks of age