Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 7.83×10-16
abnormal retina vasculature morphology Mfsd8tm1b(EUCOMM)Hmgu HOM Early adult 1.82×10-08
increased circulating aspartate transaminase level Mfsd8tm1b(EUCOMM)Hmgu HOM   Early adult 9.61×10-07
abnormal retina morphology Mfsd8tm1b(EUCOMM)Hmgu HOM Early adult 2.79×10-14
abnormal coat/hair pigmentation Mfsd8tm1b(EUCOMM)Hmgu HOM Early adult 4.06×10-17

Download data as:  TSV  XLS

Select physiological systems to view:
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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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 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.

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

21 Images

Auditory Brain Stem Response

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

4 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
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration ORPHA:168491

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
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair OMIM:606574
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus OMIM:606952
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Woolly hair, Abnormal retinal morphology, Br... ORPHA:170
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans... OMIM:619165
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o... ORPHA:33445
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo... OMIM:203200
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormal lower motor ne... ORPHA:100070
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology ORPHA:2786
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Chorioretinal coloboma, Patchy hypo- and hyperpigmen... OMIM:601706
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation OMIM:113750
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Recurrent aspir... ORPHA:204
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence, Cerebral cortical atrophy, Astrocytosis, Neuronal loss in central nervous s... OMIM:600795
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ... ORPHA:79433
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Astrocytosis, Atrophy/Dege... ORPHA:225154
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia, R... ORPHA:79476
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo... ORPHA:897
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Nephrocalcinosis, Astrocytosis, Atrial septal defect OMIM:611087
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Ret... ORPHA:3437
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin, Athetosis OMIM:257800
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o... ORPHA:352731
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy ORPHA:275864
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Global brain atrophy, Vestibular nystagmus, Astrocytosis, Ab... ORPHA:282166
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Hy... ORPHA:309854
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Hepatomegaly ORPHA:42642
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebellar at... OMIM:203700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... OMIM:618982
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Cockayne Syndrome Type 3
Hepatomegaly, Optic disc pallor, Retinal dystrophy, Hydroureter, Urinary retention, Astrocytosis,... ORPHA:90324
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79431
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ... ORPHA:139402
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Muscle fiber atrophy, Astrocytos... ORPHA:258
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
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Herpes simplex encephalitis OMIM:613002
Zika Virus Disease
Myelitis, Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Skin... ORPHA:448237
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
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
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Skin rash, Infectious encephalitis, Aganglionic megacolon, Hepatome... ORPHA:3386
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenom... OMIM:615122
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Camptodactyly of finger, Hypertrophic cardiomyopathy, Abnormal pulmona... ORPHA:1194
Congenital Enterovirus Infection
Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, Abnormal macro... ORPHA:292
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Infectiou... ORPHA:549
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Hypoplasia of the fovea, Absent skin pigmentation, Blue irides, Albi... OMIM:203100
Scrub Typhus
Renal insufficiency, Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopathy, Myocardit... ORPHA:83317
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Q Fever
Hepatosplenomegaly, Hematuria, Hepatomegaly, Endocarditis, Granuloma, Osteomyelitis, Abnormality ... ORPHA:781
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Astrocytosis, Retrocollis, Gliosis, Neuronal loss in central nervous system, Se... OMIM:601104
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Obesity And Hypopigmentation
Red hair OMIM:620195
Typhoid
Hepatomegaly, Skin rash, Splenomegaly, Infectious encephalitis ORPHA:99745
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Squalene Synthase Deficiency
Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL cholesterol concentration, E... OMIM:618156
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Leukopenia, Hepatosple... OMIM:603553
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Eosinophilia, Neutropeni... ORPHA:1163
Griscelli Syndrome Type 2
Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Hypopigmentat... ORPHA:79477
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Biliary tract abnormality, Infectious encephalitis, Colitis, N... OMIM:209920
Agammaglobulinemia, X-Linked
Cor pulmonale, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Conjunctivitis, Recurrent o... OMIM:300755
Hermansky-Pudlak Syndrome 11
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Hypoplasia of the fovea, Iris transillum... OMIM:619172
Avian Influenza
Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Myelitis... ORPHA:454836
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia, Tremor ORPHA:79254
Bacterial Toxic-Shock Syndrome
Pneumonia, Septic arthritis, Hepatitis, Fasciitis, Osteomyelitis, Renal insufficiency, Abscess, S... ORPHA:36234
Listeriosis
Arteritis, Abscess, Rhabdomyolysis, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomy... ORPHA:533
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Tremor, Premature graying of hair ORPHA:100
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatomegaly, Lymphadenopath... OMIM:267700
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Decreased proportion of CD4-positive helper... ORPHA:2552
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Recurrent otitis media, Pyoderma, Infectious encephalitis, Pros... OMIM:307200
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Whipple Disease
Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Hepatomegaly, Arthritis, Myocarditis, A... ORPHA:3452
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Reynolds Syndrome
Skin rash, Infectious encephalitis, Cirrhosis, Keratoconjunctivitis sicca, Arthritis, Hepatomegal... ORPHA:779
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Gm1 Gangliosidosis
Optic atrophy, Cardiomyopathy, Camptodactyly of finger, Abnormal heart morphology, Cherry red spo... ORPHA:354
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
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of the fundus, Premature gray... OMIM:611584
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Generalized dystonia ORPHA:70472
Zygomycosis
Abnormal cranial nerve morphology, Pustule, Retinal detachment, Acute infectious pneumonia, Neutr... ORPHA:73263
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Functional abnormality of the bladder, Hepatitis, Eczematoi... ORPHA:391487
Cerebral Visual Impairment
Optic atrophy, Central nervous system degeneration, Neurodegeneration, Infectious encephalitis, R... ORPHA:447788
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Sympathetic Ophthalmia
Macular edema, Alopecia, Vitiligo, Vitreous floaters, Papilledema, Retinal detachment, Retinal he... ORPHA:79098
Rift Valley Fever
Macular edema, Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Ret... ORPHA:319251
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Elevated circulating creatinine concentration, Abnormal retinal vascular morpholog... ORPHA:247691
Nocardiosis
Pneumonia, Brain abscess, Cutaneous abscess, Liver abscess, Lymphadenitis, Abnormal heart valve m... ORPHA:31204
Waardenburg Syndrome, Type 1
Hypopigmentation of the fundus, Premature graying of hair, Partial albinism, Thick eyebrow, White... OMIM:193500
Behçet Disease
Recurrent aphthous stomatitis, Renal insufficiency, Retinopathy, Splenomegaly, Infectious encepha... ORPHA:117
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Tremor, M... OMIM:214500
Meningococcal Meningitis
Papilledema, Renal insufficiency, Skin rash, Infectious encephalitis ORPHA:33475
Nipah Virus Disease
Infectious encephalitis ORPHA:99825
Poliomyelitis
Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low... ORPHA:2912
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Chorioretinal coloboma, Infectious encephalitis ORPHA:2481
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Cerebral cortical atrophy, Abnormal hemoglobin, Infectious encephalitis, Hydroneph... ORPHA:847
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Hartnup Disease
Infectious encephalitis, Skin rash, Neutral hyperaminoaciduria, Abnormal urinary color ORPHA:2116
New-Onset Refractory Status Epilepticus
Global brain atrophy, Infectious encephalitis ORPHA:363558
Brittle Cornea Syndrome
Retinal detachment, Abnormality of hair pigmentation ORPHA:90354
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Lyme Disease
Infectious encephalitis, Arthritis, Uveitis ORPHA:91546
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79430
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Incontinentia Pigmenti
Cerebral cortical atrophy, Keratitis, Camptodactyly of finger, Skin rash, Infectious encephalitis... ORPHA:464
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... ORPHA:3322
Vici Syndrome
Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism, Elevated circulati... OMIM:242840
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Increased circulat... ORPHA:167
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... ORPHA:238468
Immunoglobulin A Vasculitis
Optic atrophy, Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, ... ORPHA:761
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Tremor ORPHA:98794
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Ocular albinism, Choroideremia, Hypopigmentation of hair, Athetosis ORPHA:2719
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Japanese Encephalitis
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Elbow flexion contracture, In... ORPHA:79139
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Cysticercosis
Abnormal optic chiasm morphology, Abnormal skeletal muscle morphology, Chorioretinitis, Infectiou... ORPHA:1560
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Myocardial necrosis, Increased red blood cell count, Granuloma, Infectious encephaliti... ORPHA:68
Sim1-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Chikungunya
Cervical lymphadenopathy, Skin rash, Infectious encephalitis, Crusting erythematous dermatitis, S... ORPHA:324625
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Decreased circulating carnitine concentrati... OMIM:219800
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Abnormality of... ORPHA:84064
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Duane Retraction Syndrome
Blepharospasm, Irregular hyperpigmentation, Hypopigmented skin patches, Optic disc hypoplasia, Ch... ORPHA:233
Alexander Disease
Facial palsy, Abnormal autonomic nervous system physiology, Infectious encephalitis ORPHA:58
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... ORPHA:163746
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... ORPHA:177907
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Degcags Syndrome
Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol... OMIM:619488
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Optic atrophy, Hypopigmentation of hair,... ORPHA:818
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration ORPHA:168491
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated circulating hepatic transaminase concentration, Enuresis, Abnormal autonomic nervous sys... 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
Mfsd8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mfsd8tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
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

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