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

liver fibrosis ( J:280713 )

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

increased liver tumor incidence ( J:280713 )

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

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