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Gene: Mab21l4 MGI:1919124

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Gene Summary

Name:
mab-21-like 4
Synonyms:
2310007B03Rik

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
abnormal response to new environment Mab21l4tm1a(KOMP)Wtsi HOM   Early adult 4.68×10-05
decreased circulating creatinine level Mab21l4tm1a(KOMP)Wtsi HOM   Early adult 5.17×10-07
increased bone mineral density Mab21l4tm1a(KOMP)Wtsi HOM Early adult 5.82×10-05
decreased circulating serum albumin level Mab21l4tm1a(KOMP)Wtsi HOM Early adult 8.78×10-05
abnormal behavior Mab21l4tm1a(KOMP)Wtsi HOM Early adult 1.64×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus 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%
blood vessel
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%
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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
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%
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.

Phenotype associated images not available

Human diseases caused by Mab21l4 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 Mab21l4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis ORPHA:88643
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Flynn-Aird Syndrome
Joint stiffness, Increased bone density with cystic changes, Dementia, Osteoporosis, Increased bo... OMIM:136300
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr... OMIM:620366
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Diarrhea 13
Hypoalbuminemia OMIM:620357
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre... OMIM:300539
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Elevated circulating creatine kinase concentration, Hyperc... OMIM:208920
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Cognitive impairment, Elevated circulating alpha-fetoprote... OMIM:616267
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Periostosis OMIM:614441
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Hy... ORPHA:247585
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Rickets, Osteomalacia OMIM:179830
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Melorheostosis
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... ORPHA:2485
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Irritability, Increa... ORPHA:36913
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min... ORPHA:210110
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... OMIM:179800
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Joint hypermobility, Hypertriglyceridemia OMIM:619013
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, H... ORPHA:94089
Alg1-Cdg
Hypoalbuminemia, Limitation of joint mobility ORPHA:79327
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Immunodeficiency 27A
Hypoalbuminemia, Salmonella osteomyelitis OMIM:209950
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly OMIM:608104
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia ORPHA:398063
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Short atten... ORPHA:88618
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Confusion ORPHA:54057
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia, Irritability OMIM:613070
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Elevated circulating creatinine concentration, Arthritis ORPHA:567544
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Rickets OMIM:615605
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Increased bone mineral density, Hyperuricemia, ... OMIM:239000
Reni Syndrome
Hypoalbuminemia, Mental deterioration, Hypertriglyceridemia OMIM:617575
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:617056
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Hypocalcemia, Femur fracture, Osteopetrosis, Calvarial osteos... OMIM:259700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Irritab... OMIM:603553
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated cir... ORPHA:158061
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia, Cognitive impairment ORPHA:64743
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis, Arthritis, Ost... ORPHA:53
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hyperammonemia, Joint hypermobility, Decreased serum zinc, Conjugated hyperbilir... OMIM:617093
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia, Irritability ORPHA:292
Leishmaniasis
Hypoalbuminemia ORPHA:507
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Confusion, Osteomyelitis, Hypocal... ORPHA:36234
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture OMIM:616733
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... ORPHA:90650
Generalized Pustular Psoriasis
Hypoalbuminemia, Hypocalcemia, Hyponatremia, Arthritis, Elevated circulating C-reactive protein c... ORPHA:247353
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Flexion contracture ORPHA:367
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Diastrophic Dysplasia
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger ORPHA:628
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Osteogenesis Imperfecta, Type Xiii
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone... OMIM:614856
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Osteoporosis, Irritability OMIM:619487
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Progressive neurologic deterioration, Hyperalaninemia OMIM:618329
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification ORPHA:163649
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Os... OMIM:618476
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Increased b... ORPHA:1782
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Wilson Disease
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Osteomalacia, Hyperbilirubinemia, Increased circula... OMIM:277900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Elevated circulating alpha-fetopr... OMIM:251880
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased bone mineral density OMIM:616943
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Flexion contracture, Osteopenia OMIM:212065
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apoli... ORPHA:14
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas... OMIM:259710
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Flexion contracture OMIM:617303
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Hyperbilirubinemia, Hypocalcemia, Irritability, Osteopetrosis, Decreased os... OMIM:259720
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Mental deterioration OMIM:254900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:619055
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Abnormal bone ossification, Camptodactyly ORPHA:79324
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Gout, Hyperuricemia ORPHA:79233
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Pseudohypoparathyroidism Type 1C
Depression, Hyperphosphatemia, Ectopic ossification, Hypocalcemic tetany, Confusion, Hypocalcemia... ORPHA:79444
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Camptodactyly OMIM:235510
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Cognitive impairme... OMIM:222470
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Osteomyelitis, Hypocalcemia, Decreased circulating prealbumin co... ORPHA:37042
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Majeed Syndrome
Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ... ORPHA:77297
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Osteoporosis, Co... ORPHA:186
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Hypocalcemia, Joint hypermobility, Thin bony cortex, Unconj... OMIM:613658
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Pseudohypoparathyroidism Type 1A
Depression, Hyperphosphatemia, Ectopic ossification, Hypocalcemic tetany, Confusion, Hypocalcemia... ORPHA:79443
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr... OMIM:127000
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Camptodactyly OMIM:617729
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Memory impairment, Depression, Elevated circulating creatinine concentration, Irritability, Cogni... ORPHA:247691
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen, Cog... OMIM:235400
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration OMIM:618885
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Camptodactyly OMIM:251300
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Abnormal circulat... ORPHA:2298
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Pycnodysostosis
Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized... ORPHA:763
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Car T Cell Therapy-Associated Cytokine Release Syndrome
Confusion, Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Primary Sclerosing Cholangitis
Hypoalbuminemia, Osteopenia, Depression, Osteoporosis ORPHA:171
Thrombotic Thrombocytopenic Purpura, Hereditary
Confusion, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... OMIM:224300
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Confusion, Hyperamylasemia, Hyper... ORPHA:99826
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elbow flexion contracture, Elevated circulating creatinine concentrati... OMIM:608836
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Joint stiffness, Flexion contracture ORPHA:505248
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Joint stiffness, Hip contracture, Irritability, Elevated circulatin... ORPHA:800
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... ORPHA:90363
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Craniosynostosis ORPHA:79396
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Gaucher Disease
Osteopenia, Depression, Increased circulating ferritin concentration, Osteolysis, Osteomyelitis, ... ORPHA:355
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Increased bone mineral density, Sclerosis of skull ba... OMIM:131300
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Hypophosphatemia, Generalized osteosclerosis, Arthritis, E... ORPHA:89936
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Distal symphalangism OMIM:154230
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Emotional lability, Increased blood urea nitrogen OMIM:223900
Multiple Myeloma
Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Hyperproteinemia,... ORPHA:29073
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Desmosterolosis
Joint contracture of the hand, Abnormal circulating cholesterol concentration, Generalized osteos... OMIM:602398
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Irritability, Arthritis, Hypoalbuminemia ORPHA:2331
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Raine Syndrome
Increased bone mineral density, Hypophosphatemia, Arthrogryposis multiplex congenita, Subperioste... OMIM:259775
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Osteomalacia, Osteomyelitis, Arthritis, Elevated circulating C-reactive protein ... OMIM:619381
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:174000
Gaucher Disease Type 3
Dementia, Increased bone mineral density, Increased susceptibility to fractures, Osteolysis ORPHA:77261
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... ORPHA:2658
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Trichothiodystrophy
Osteopenia, Craniosynostosis, Multiple joint contractures, Increased bone mineral density ORPHA:33364
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de... ORPHA:90652
Poems Syndrome
Sclerosis of foot bone, Sclerosis of skull base, Sclerosis of hand bone ORPHA:2905
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Epiphyseal stippling, Elevated circulating 7-dehydrocholest... OMIM:270400
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra... ORPHA:85450
Sickle Cell Anemia
Osteoporosis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Ost... ORPHA:232
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Irritability, Hypokalemia, Hyponatremia, Unconjuga... ORPHA:90038
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level OMIM:301110
Erdheim-Chester Disease
Increased bone mineral density, Osteolysis, Osteomyelitis ORPHA:35687
Juvenile Nephropathic Cystinosis
Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ... ORPHA:411634
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Atypical Werner Syndrome
Limitation of joint mobility, Sclerosis of hand bone, Osteolytic defects of the phalanges of the ... ORPHA:79474
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Increased circulating ferritin concentration, Elevated circulating c... OMIM:619534
Papillorenal Syndrome
Elevated circulating creatinine concentration, Joint hypermobility OMIM:120330
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Hypocalcemic seizures, Osteopetrosis OMIM:612301
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Cardiogenic Shock
Confusion, Elevated circulating creatinine concentration ORPHA:97292
Sclerosteosis 1
Cortically dense long tubular bones, Cognitive impairment, Sclerotic scapulae, Facial palsy secon... OMIM:269500
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo... OMIM:248250
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Primary Hyperoxaluria
Generalized osteosclerosis, Hyperoxaluria, Recurrent fractures ORPHA:416
Williams Syndrome
Synostosis of joints, Osteopenia, Depression, Abnormal circulating lipid concentration, Joint sti... ORPHA:904
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density OMIM:620558
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Osteopetrosis, Craniosynostosis, Reduced bone mineral density, Re... ORPHA:667
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Hemorrhagic Fever-Renal Syndrome
Confusion, Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:137920
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:449395
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Pmm2-Cdg
Hypoalbuminemia, Osteopenia, Multiple joint contractures, Joint hypermobility, Reduced thyroxin-b... ORPHA:79318
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones OMIM:269150
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500

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 Mab21l4

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 Mab21l4.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing loss. PloS one (October 2021) Mab21l4tm1a(KOMP)Wtsi PMC8486144

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
Mab21l4tm45113(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mab21l4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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