Gene Summary

Name:
solute carrier family 25, member 30
Synonyms:
4933433D23Rik,  KMCP1

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
persistence of hyaloid vascular system Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 6.98×10-06
increased lean body mass Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 1.94×10-07
decreased total body fat amount Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 6.51×10-07
abnormal vertebral arch morphology Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 1.62×10-05
decreased circulating serum albumin level Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 3.83×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

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

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

DSS Histology

Images

8 Images

Legacy Phenotype Associated Images

View all 71 images

View all 9 images

View all 7 images

Human diseases caused by Slc25a30 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc25a30 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia, Scoliosis, Failure to thrive, Retinal d... ORPHA:79320
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Alg1-Cdg
Kyphosis, Hypoalbuminemia, Scoliosis ORPHA:79327
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... OMIM:616050
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis OMIM:208920
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Scoliosis OMIM:619013
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Elevated circulating creatinine concentration, Hypoalbuminemia, Camptodactyly, Failur... OMIM:608104
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Xfe Progeroid Syndrome
Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypoalbuminemia, Scoliosi... OMIM:610965
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Immunodeficiency 27A
Hypoalbuminemia, Weight loss OMIM:209950
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Refractory Celiac Disease
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2070
Leishmaniasis
Hypoalbuminemia, Weight loss ORPHA:507
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Immunodeficiency 32B
Failure to thrive, Hypoalbuminemia OMIM:226990
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Hypoalbuminemia OMIM:617021
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... ORPHA:247353
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Flexion contracture, Hypoalbuminemia ORPHA:367
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoalbuminemia, S... OMIM:619055
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... OMIM:617093
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body weight ORPHA:1667
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Alg12-Cdg
Hyponatremia, Retinal detachment, Abnormal adipose tissue morphology, Hypoalbuminemia, Scoliosis,... ORPHA:79324
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Optic atrophy, Hypoalbuminemia, Short neck OMIM:617303
Aicardi-Goutieres Syndrome 9
Optic atrophy, Weight loss, Hypoalbuminemia, Scoliosis, Failure to thrive OMIM:619487
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Flexion contracture, Atypical scarring of skin, Decrease... ORPHA:89842
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, Hy... OMIM:212065
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Coloboma, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, Optic atrophy, Hypoalbuminemia OMIM:618329
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Lumbar hyperlordosis, Short neck, Flexion contracture, Optic... ORPHA:505248
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Spina bifida occulta, Hypoalbuminemia, Scoliosis, Camptodactyly, Umbilical hernia, Joint contract... OMIM:235510
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Abetalipoproteinemia
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Failure to thrive, ... ORPHA:14
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbi... OMIM:251880
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Retinal h... ORPHA:86839
Bacterial Toxic-Shock Syndrome
Fasciitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... ORPHA:36234
Galloway-Mowat Syndrome 1
Small for gestational age, Hiatus hernia, Optic atrophy, Hypoalbuminemia, Camptodactyly, Joint co... OMIM:251300
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypernatremia, Hypoalbuminemia OMIM:615508
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia, Camptodactyly, Hiatus hernia OMIM:617729
Juvenile Polyposis Syndrome
Hypokalemia, Failure to thrive, Hypoalbuminemia OMIM:174900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca... ORPHA:37042
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia, Weight loss ORPHA:85443
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Weight loss ORPHA:67
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive ORPHA:79396
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Trichohepatoenteric Syndrome 1
Small for gestational age, Increased serum iron, Hypoalbuminemia, Hypermethioninemia, Abnormality... OMIM:222470
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Increased body weight, Weight loss, Hypotriglyceri... ORPHA:2298
Rajab Interstitial Lung Disease With Brain Calcifications 1
Inguinal hernia, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbili... OMIM:613658
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... OMIM:120200
Juvenile Polyposis Of Infancy
Cachexia, Hypoalbuminemia, Subcutaneous lipoma ORPHA:79076
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... ORPHA:90363
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Marburg Hemorrhagic Fever
Back pain, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulat... ORPHA:99826
Smith-Lemli-Opitz Syndrome
Sacral dimple, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochol... OMIM:270400
Primary Sclerosing Cholangitis
Hypoalbuminemia, Weight loss ORPHA:171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... OMIM:614643
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss OMIM:619381
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Ele... OMIM:619534
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Atelis Syndrome 2
Kyphosis, Sacral dimple, Remnants of the hyaloid vascular system OMIM:620185
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic nerve hypoplasi... OMIM:603671
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
Osteogenesis Imperfecta
Inguinal hernia, Small for gestational age, Cervical kyphosis, Abnormal dental enamel morphology,... ORPHA:666
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Myhre Syndrome
Vertebral fusion, Small for gestational age, Short neck, Obesity, Enlarged vertebral pedicles, Pl... OMIM:139210
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Cachexia ORPHA:75565
Pmm2-Cdg
Multiple joint contractures, Lipodystrophy, Kyphoscoliosis, Abnormal subcutaneous fat tissue dist... ORPHA:79318
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Flexion contracture, Scoliosis, Decr... OMIM:300166
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Scoliosis, Chorioretinal coloboma, Cyclopia, Iris coloboma OMIM:157170
Neuroocular Syndrome
Sacral dimple, Remnants of the hyaloid vascular system, Lens coloboma, Umbilical hernia, Iris col... OMIM:619539
Norrie Disease
Retinal detachment, Remnants of the hyaloid vascular system, Cachexia, Optic atrophy, Scoliosis, ... ORPHA:649
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637

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 Slc25a30

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 Slc25a30.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Slc25a30tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Slc25a30tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Slc25a30tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Slc25a30tm1a(EUCOMM)Wtsi PMC5827107

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
Slc25a30tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Slc25a30tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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