Phenotypes associated with this allele

• Allele Symbol: Mfsd8^{tm1a(EUCOMM)Hmgu}
• Allele Name: targeted mutation 1a, Helmholtz Zentrum Muenchen GmbH
• Allele ID: MGI:4456699
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mfsd8^tm1a(EUCOMM)Hmgu/Mfsd8^tm1a(EUCOMM)Hmgu	involves: C57BL/6N	MGI:5604251

Genotype
MGI:5604251

hm1

• Allelic Composition: Mfsd8^{tm1a(EUCOMM)Hmgu}/Mfsd8^{tm1a(EUCOMM)Hmgu}
• Genetic Background: involves: C57BL/6N
• Cell Lines: HEPD0623_4_A06

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

nervous system

CNS inflammation ( J:211608 )

• neuroinflammation

abnormal nervous system morphology ( J:211608 )

• accumulation of autofluorescent ceroid lipopigments is seen in the cerebellum, including in the soma of Purkinje cells and the granular cell layer, in the hippocampus, particularly in the CA3 region, in thalamic neurons, the olfactory bulb, spinal cord and several nuclei of the medulla

• a slight increase of autofluorescent ceroid lipopigments is seen in the cerebral cortex, and the dentate gyrus is almost unaffected as is the molecular layer, except for Purkinje cell dendrites

• lysosomal accumulation of subunit c of mitochondrial ATP synthase throughout the entire CNS, with the highest accumulation in the cerebellum, certain nuclei of the medulla, and the CA3 region of the hippocampus

• ultrastructure of the storage material shows dense lamellar bodies with irregular forms within cerebellar and hippocampal neurons

microgliosis ( J:211608 )

• mild microgliosis is detected by 4 months of age and is robust by 10 months of age throughout the entire CNS, with a high degree in the cerebellum, spinal cord, and thalamus

astrocytosis ( J:211608 )

• subtle white matter astrogliosis of the cerebellum at 10 months of age

• hypertrophy of astrocytes in the gray matter of the spinal cord and beginning in the thalamus

retina photoreceptor degeneration ( J:211608 )

• in peripheral retinal regions, the photoreceptor cell layer is reduced to only one row of photoreceptor cell nuclei or is completely degenerated

• the photoreceptor cell layer in the central retinal regions is severely degenerated at 8.5 months of age and reduced to 2-3 rows of photoreceptor cell nuclei

cardiovascular system

abnormal myocardial fiber morphology ( J:211608 )

• accumulation of autofluorescent ceroid lipopigments in cardiac myofibers

cellular

abnormal lysosome morphology ( J:211608 )

• large lysosomes are seen in hippocampal cells

• lysosomal storage is seen in large neurons like motor neurons of the medulla or Purkinje cells of the cerebellum

hematopoietic system

microgliosis ( J:211608 )

• mild microgliosis is detected by 4 months of age and is robust by 10 months of age throughout the entire CNS, with a high degree in the cerebellum, spinal cord, and thalamus

abnormal spleen morphology ( J:211608 )

• accumulation of autofluorescent ceroid lipopigments in the spleen

immune system

microgliosis ( J:211608 )

• mild microgliosis is detected by 4 months of age and is robust by 10 months of age throughout the entire CNS, with a high degree in the cerebellum, spinal cord, and thalamus

abnormal spleen morphology ( J:211608 )

• accumulation of autofluorescent ceroid lipopigments in the spleen

CNS inflammation ( J:211608 )

• neuroinflammation

liver/biliary system

abnormal liver morphology ( J:211608 )

• accumulation of autofluorescent ceroid lipopigments in the liver in close proximity to central veins

• subunit c of mitochondrial ATP synthase-positive deposits are seen in the liver, detected in microgranulomas comprising of small rounded clusters of enlarged, foamy macrophages within sinusoids throughout the parenchyma, but very little in lysosomes of hepatocytes

muscle

abnormal myocardial fiber morphology ( J:211608 )

• accumulation of autofluorescent ceroid lipopigments in cardiac myofibers

renal/urinary system

abnormal kidney morphology ( J:211608 )

• accumulation of autofluorescent ceroid lipopigments in the kidney

vision/eye

retina photoreceptor degeneration ( J:211608 )

• the photoreceptor cell layer in the central retinal regions is severely degenerated at 8.5 months of age and reduced to 2-3 rows of photoreceptor cell nuclei

• in peripheral retinal regions, the photoreceptor cell layer is reduced to only one row of photoreceptor cell nuclei or is completely degenerated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 7		DOID:0110722	OMIM:610951	J:211608