banner
Genes Phenotypes Help, News, Blog

Gene: Mfsd8 MGI:1919425

Log in to follow

Gene Summary

Name:
major facilitator superfamily domain containing 8
Synonyms:
2810423E13Rik,  Cln7

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
impaired pupillary reflex Mfsd8tm1b(EUCOMM)Hmgu HOM Early adult 2.29×10-15
abnormal retina vasculature morphology Mfsd8tm1b(EUCOMM)Hmgu HOM Early adult 3.83×10-08
increased circulating aspartate transaminase level Mfsd8tm1b(EUCOMM)Hmgu HOM   Early adult 9.61×10-07
abnormal coat/hair pigmentation Mfsd8tm1b(EUCOMM)Hmgu HOM Early adult 4.06×10-17
abnormal retina morphology Mfsd8tm1b(EUCOMM)Hmgu HOM Early adult 2.79×10-14

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Adult LacZ

LacZ Images Wholemount

21 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Echo

M-Mode Images

32 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Mfsd8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mfsd8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170

The table below shows human diseases predicted to be associated to Mfsd8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism OMIM:606952
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali... ORPHA:170
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Optic atrophy, Premature graying... ORPHA:33445
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology, Albinism ORPHA:2786
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, Chorioretinal co... OMIM:601706
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair OMIM:113750
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Recurrent aspir... ORPHA:204
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Neuronal loss in central nervous system, Cerebral cortical atrophy, Urinary incontinence, Astrocy... OMIM:600795
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Griscelli Syndrome Type 1
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iris hypopi... ORPHA:79476
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Astrocytosis, Upper limb muscle weakness, Atrophy/Degeneration involving the cauda... ORPHA:225154
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Atrial septal defect, Facial hypotonia, Astrocytosis OMIM:611087
Vogt-Koyanagi-Harada Disease
Retinal detachment, Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash mo... ORPHA:3437
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Athetosis, Hypopigmentation of the skin OMIM:257800
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Astrocytosis ORPHA:275864
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Central nervous system degeneration, Abnormal autonomic nervous system physiology, ... ORPHA:282166
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Infectious encephalitis ORPHA:42642
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... OMIM:618982
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria,... OMIM:203700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Retinal degeneration, Hepatomegaly, Retinal atrophy... ORPHA:90324
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Astrocytosis, Cardiomyo... ORPHA:258
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Astrocytosis, Frontotemporal c... ORPHA:100070
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Gliosis OMIM:613002
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... ORPHA:139402
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly of finger, Cryptorc... ORPHA:1194
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Thrombocytopenia... ORPHA:540
Zika Virus Disease
Maculopapular exanthema, Skin rash, Optic disc hypoplasia, Macular atrophy, Thrombocytopenia, Ret... ORPHA:448237
Crigler-Najjar Syndrome
Jaundice, Abnormality of the liver, Infectious encephalitis ORPHA:205
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Myocarditis, Splenomegaly, Lymphadenopathy, Cardi... ORPHA:3386
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditis, Leukocytosis, Hepat... ORPHA:292
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Myocarditis, Jaundice, Hepatitis, E... ORPHA:549
Q Fever
Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa... ORPHA:781
Squalene Synthase Deficiency
Optic nerve hypoplasia, Increased circulating farnesol concentration, Decreased LDL cholesterol c... OMIM:618156
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Inf... ORPHA:83317
Methionine Malabsorption Syndrome
White hair, Blue irides, Positive ferric chloride test OMIM:250900
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, Retrocollis, Senile plaque... OMIM:601104
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious encephalitis... ORPHA:1304
Obesity And Hypopigmentation
Red hair OMIM:620195
Typhoid
Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly ORPHA:99745
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Splenomegaly, Jaundice, Hep... OMIM:603553
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Cor pulmonale, Bronch... OMIM:300755
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... ORPHA:79477
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def... OMIM:619172
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... OMIM:209920
Classic Phenylketonuria
Tremor, Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Myositis, Fasciitis, Glomerulonephritis, Abscess, Sinusitis, Pneumonia, Myoc... ORPHA:36234
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... ORPHA:533
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious... ORPHA:2552
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Tremor, Multiple cafe-au-lait spots ORPHA:100
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Vitritis, Bronchiectasis, Hepatitis... ORPHA:1163
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Avian Influenza
Elevated hepatic transaminase, Lymphopenia, Pneumonia, Rhabdomyolysis, Hepatitis, Leukopenia, Con... ORPHA:454836
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infe... OMIM:267700
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Prematu... OMIM:611584
Whipple Disease
Hepatomegaly, Myositis, Pericarditis, Myocarditis, Splenomegaly, Mediastinal lymphadenopathy, Uve... ORPHA:3452
Reynolds Syndrome
Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Infectious e... ORPHA:779
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Absence of lymph node germinal center, ... OMIM:308230
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Abnormal retinal vascular morphology, Splenom... ORPHA:354
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... ORPHA:391487
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Generalized dystonia ORPHA:70472
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Central ner... ORPHA:447788
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... ORPHA:79098
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc... ORPHA:73263
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Retinitis, Jaundice, Hepatitis, Uveitis, Macular edema,... ORPHA:319251
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c... ORPHA:247691
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Behçet Disease
Increased inflammatory response, Renal insufficiency, Pericarditis, Myositis, Acne, Orchitis, Spl... ORPHA:117
Waardenburg Syndrome, Type 1
Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Prematur... OMIM:193500
Nocardiosis
Brain abscess, Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, Osteomyel... ORPHA:31204
Chediak-Higashi Syndrome
Hypopigmentation of hair, Tremor, Silver-gray hair, Ocular albinism, Giant melanosomes in melanoc... OMIM:214500
Meningococcal Meningitis
Skin rash, Papilledema, Renal insufficiency, Infectious encephalitis ORPHA:33475
Nipah Virus Disease
Infectious encephalitis ORPHA:99825
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal motor nerve conduction velocity,... ORPHA:2912
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Aganglionic megacolon, Abnormal hemoglobin, Cryptorchidism, Flexion contract... ORPHA:847
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Infectious encephalitis, Chorioretinal coloboma ORPHA:2481
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
New-Onset Refractory Status Epilepticus
Infectious encephalitis, Global brain atrophy ORPHA:363558
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Hartnup Disease
Skin rash, Abnormal urinary color, Infectious encephalitis, Neutral hyperaminoaciduria ORPHA:2116
Lyme Disease
Arthritis, Infectious encephalitis, Uveitis ORPHA:91546
Brittle Cornea Syndrome
Retinal detachment, Abnormality of hair pigmentation ORPHA:90354
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Abnormal optic ne... ORPHA:79430
Chédiak-Higashi Syndrome
Hyponatremia, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypertriglycerid... ORPHA:167
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Vici Syndrome
Hypopigmentation of hair, Macular atrophy, Elevated circulating creatine kinase concentration, Al... OMIM:242840
Incontinentia Pigmenti
Retinal detachment, Skin rash, Camptodactyly of finger, Eosinophilia, Abnormal chorioretinal morp... ORPHA:464
Immunoglobulin A Vasculitis
Episcleritis, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Optic atrophy, Hema... ORPHA:761
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ocular albinism, Athetosis, Choroideremia, Iris hypopigmentation ORPHA:2719
Cysticercosis
Calcification of muscles, Abnormal optic chiasm morphology, Retinal detachment, Iridocyclitis, Ab... ORPHA:1560
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Neutrophilia, Facial palsy, P... ORPHA:79139
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Sinusitis, Facial palsy, Pneumonia, Pustule, Granuloma, Infectious encephali... ORPHA:68
Sim1-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398079
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Cervical lymphadenopathy, Crusting erythema... ORPHA:324625
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Abnormality of iron homeostasis, Uncombable hair, Woolly ... ORPHA:84064
Cystinosis, Nephropathic
Hyponatremia, Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial ... OMIM:219800
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398069
Prader-Willi Syndrome
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... OMIM:176270
Alexander Disease
Abnormal autonomic nervous system physiology, Infectious encephalitis, Facial palsy ORPHA:58
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... ORPHA:177907
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... OMIM:619488
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair, Optic atrophy, Elevated circulating 7-dehy... ORPHA:818
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Enuresis, Infectious encephalitis, Abnormal autonomic nervous syst... ORPHA:293987

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mfsd8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mfsd8.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 disease. The Journal of clinical investigation (March 2022) Mfsd8tm1a(EUCOMM)Hmgu Mfsd8tm1d(EUCOMM)Hmgu PMC8884910
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. Nature communications (January 2022) Mfsd8tm1a(EUCOMM)Hmgu PMC8795187
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells (April 2020) Mfsd8tm1d(EUCOMM)Hmgu 32290105
Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7. Investigative ophthalmology & visual science (September 2016) Mfsd8tm1d(EUCOMM)Hmgu 27654426
Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice. Investigative ophthalmology & visual science (March 2016) Mfsd8tm1a(EUCOMM)Hmgu 26975023
Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7. Human molecular genetics (December 2015) Mfsd8tm1a(EUCOMM)Hmgu 26681805
Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease. Neurobiology of disease (January 2014) Mfsd8tm1a(EUCOMM)Hmgu 24423645

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mfsd8tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Mfsd8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mfsd8tm45701(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mfsd8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mfsd8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter