Gene Summary

S-antigen, retina and pineal gland (arrestin)
rod arrestin,  A930001K18Rik,  arrestin 1,  visual arrestin 1,  Arr1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
decreased circulating calcium level Sagtm1a(EUCOMM)Wtsi HOM Early adult 3.15×10-08
iris synechia Sagtm1a(EUCOMM)Wtsi HOM   Early adult 8.40×10-05
increased lean body mass Sagtm1a(EUCOMM)Wtsi HOM Early adult 4.40×10-07
decreased circulating fructosamine level Sagtm1a(EUCOMM)Wtsi HOM Early adult 9.45×10-05
decreased total body fat amount Sagtm1a(EUCOMM)Wtsi HOM Early adult 1.42×10-06
decreased circulating HDL cholesterol level Sagtm1a(EUCOMM)Wtsi HOM Early adult 7.66×10-05

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.


XRay Images Skull Lateral Orientation

14 Images


XRay Images Whole Body Lateral Orientation

16 Images


XRay Images Skull Dorso Ventral Orientation

16 Images


XRay Images Forepaw

16 Images


XRay Images Whole Body Dorso Ventral

16 Images

Legacy Phenotype Associated Images

View all 78 images

Human diseases caused by Sag 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 predicted to be associated to Sag by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hypercholesterolemia, Hypocalcemia, Generalized lipodystrophy, Reduced subcutaneou... OMIM:612526
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Flexion contracture OMIM:615883
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemia OMIM:146200
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... ORPHA:827
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Familial Isolated Hypoparathyroidism
Cataract, Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Conjunctiv... ORPHA:36913
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Hypercalcemia ORPHA:55881
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Enamel hypoplasia, Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic... ORPHA:94089
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Chylomicron Retention Disease
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Steatorrhea, Decrea... OMIM:246700
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Developmental cataract, Decreased LDL cholesterol concentration, Failure to thrive, Hypocholester... OMIM:616834
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Oculocerebrodental Syndrome
Hypocalcemia, Developmental cataract, Hypercalcemia, Enamel hypoplasia ORPHA:557003
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Cataract, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
X-Linked Agammaglobulinemia
Cellulitis, Hypocalcemia, Conjunctivitis, Failure to thrive, Weight loss ORPHA:47
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia OMIM:606407
Oculoskeletodental Syndrome
Developmental cataract, Hypercalcemia, Small for gestational age, Hypocalcemia, Elbow flexion con... OMIM:618440
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia, Weight loss ORPHA:398063
Gracile Bone Dysplasia
Failure to thrive, Aniridia, Hypocalcemia OMIM:602361
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia ORPHA:1563
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypophosphatemia, Hypocalcemia ORPHA:93160
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Timothy Syndrome
Hypocalcemia OMIM:601005
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Hypocalcemia, Abnormal dental enamel morphology, Hyperphosphatemia ORPHA:2323
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior em... OMIM:612109
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
2Q24 Microdeletion Syndrome
Small for gestational age, Cataract, Failure to thrive, Camptodactyly of finger, Abnormality iris... ORPHA:1617
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Hypopyon, Abnormal corneal endothelium morphology, Posterior uveiti... ORPHA:209959
Familial Isolated Hyperparathyroidism
Chondrocalcinosis, Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Cataract, Obesity, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Small for gestational age OMIM:607143
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Failure to thrive, Hypophosphatemia ORPHA:289157
Blue Diaper Syndrome
Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Juvenile Nephropathic Cystinosis
Hypokalemia, Abnormal cornea morphology, Elevated circulating creatinine concentration, Hyponatre... ORPHA:411634
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Overweight, Elevated circulati... ORPHA:26793
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Enamel hypoplasia, Cataract, Obesity, Hypocalcemia, Calcinosis, Hyperphosp... ORPHA:79444
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Transient hypophosphatemia, Small for gestational age, Hypocalcemia, Hype... OMIM:127000
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Chondrocalcinosis, Hypermagnesemia, Hypercalcemia OMIM:145981
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Weight loss ORPHA:90362
Intermediate Uveitis
Macular scar, Band keratopathy, Cataract, Posterior synechiae of the anterior chamber, Anterior u... ORPHA:279914
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Cataract, Obesity, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Idiopathic Anterior Uveitis
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Nuclear cataract ORPHA:280914
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia OMIM:259700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Pseudohypoparathyroidism Type 1A
Band keratopathy, Hypocalcemic seizures, Enamel hypoplasia, Cataract, Obesity, Hypocalcemia, Calc... ORPHA:79443
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... ORPHA:280921
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Hypocalcemia, Hypoproteinemia OMIM:235255
Rhabdoid Tumor
Weight loss, Hypercalcemia ORPHA:69077
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Mydriasis, Hyperbilirubinemia OMIM:259720
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Hypercalcemia, Failure to thrive in infancy ORPHA:436
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Hypocalcemia, Failure to thrive, Weight loss, Steatorrhea OMIM:212750
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Bacterial Toxic-Shock Syndrome
Cellulitis, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulating cre... ORPHA:36234
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kinase con... ORPHA:94093
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Failure to thrive in infancy ORPHA:746
Hypercalcemia, Infantile, 1
Failure to thrive, Infantile hypercalcemia, Weight loss OMIM:143880
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Weight loss, Hypercalcemia ORPHA:35710
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Hyperma... ORPHA:405
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Velocardiofacial Syndrome
Posterior embryotoxon, Umbilical hernia, Hypocalcemia, Inguinal hernia OMIM:192430
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Hypercalcemia, Chondrocalcinosis, Hypermagnesemia, Hypophosphatemia OMIM:600740
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Abnormal blood ion concentration, Hypocalcemia, Cachexia, Hypoalbum... ORPHA:37042
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Failure to thrive, Steatorrhea OMIM:266510
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Hypocalcemia, Hypoproteinemia ORPHA:1655
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Anterior chamber flare, Chorioretinal scar, Poster... ORPHA:91500
Pearson Syndrome
Hypokalemia, Small for gestational age, Cataract, Hypocalcemia, Corneal stromal edema, Hypophosph... ORPHA:699
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia ORPHA:94080
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Potocki-Lupski Syndrome
Hypocholesterolemia, Failure to thrive, Small for gestational age OMIM:610883
Infantile Myofibromatosis
Chondrocalcinosis, Hypercalcemia ORPHA:2591
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Failure to thrive, Hypercalcemia OMIM:241500
Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hypocalcemia, Obesity, Blue irides ORPHA:280651
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Failure to thrive, Hyperbilirubinemia, Steatorrhea OMIM:607765
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Chondrocalcinosis, Failure to thrive, Hypermagnesemia, Hypomagnesemia,... ORPHA:358
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Short Syndrome
Lipodystrophy, Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxo... ORPHA:3163
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Weight loss, Hypercalcemia ORPHA:97289
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Cartilage-Hair Hypoplasia
Failure to thrive, Hypocalcemia ORPHA:175
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Obesity, Abnormal dental enamel morphology, Hypercalcemia ORPHA:251004
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal corneal endothelium morphology, Chorioretinal atrophy, Posterior synechiae of the anteri... ORPHA:364055
22Q11.2 Deletion Syndrome
Posterior embryotoxon, Cataract, Obesity, Hypocalcemia, Inguinal hernia, Failure to thrive, Abnor... ORPHA:567
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hip contracture, Hypercalcemia, Knee flexion contracture OMIM:156400
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Slender build, Hypocalcemia, Inguinal hernia, Failure to thrive, Hypoa... OMIM:613658
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Steatorrhea ORPHA:71
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Developmental cataract OMIM:618810
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Failure to thrive, Hypocalcemia ORPHA:2785
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Small for gestational age, Hypochloremia, Increased circulating renin level, Hyperca... OMIM:601678
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Cranioectodermal Dysplasia 1
Hypocalcemia, Enamel hypoplasia OMIM:218330
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Decreased circulating cortisol level, Hyperuricemia, Failure to thri... ORPHA:199299
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decreased circulati... ORPHA:95409
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Abnormal subcutaneous fat tissue distribution, Failure to thrive, Hypoalbumi... OMIM:212065
Hennekam Syndrome
Camptodactyly of finger, Hypocalcemia ORPHA:2136
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia OMIM:264700
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Developmental cataract, Hypercalcemia OMIM:171300
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Developmental cataract, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Weight loss, Hypercalcemia ORPHA:29072
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Hypophosphatemia, Weight loss ORPHA:143
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia ORPHA:276621
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia OMIM:277440
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Digeorge Syndrome
Sclerocornea, Posterior embryotoxon, Hypocalcemia, Obesity, Femoral hernia, Inguinal hernia, Umbi... OMIM:188400
Corneal ulceration, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Keratoconjuncti... ORPHA:14
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Increased circulating cortisol level, Hypercalcemia OMIM:131100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Astigmatism, Obesity, Hypercalcemia ORPHA:369837
Zollinger-Ellison Syndrome
Multiple lipomas, Hypercalcemia, Lipoma, Weight loss, Increased circulating cortisol level ORPHA:913
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Hypophosphatemia ORPHA:99880
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Flexion contracture, Enamel hypoplasia, Hypocalcemia, Reduced subcutaneous adipose tissue, Knee f... OMIM:619503
Hyponatremia, Abnormal adipose tissue morphology, Failure to thrive, Hypoalbuminemia, Hypocholest... ORPHA:79324
Congenital Muscular Dystrophy With Cerebellar Involvement
Elevated circulating creatine kinase concentration, Cataract, Megalocornea, Abnormality iris morp... ORPHA:370959
Monosomy 13Q34
Infantile hypercalcemia, Obesity ORPHA:96168
Subcutaneous lipoma, Hypokalemia, Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:97282
Subcutaneous lipoma, Increased circulating cortisol level, Weight loss, Hypercalcemia ORPHA:97278
Subcutaneous lipoma, Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea ORPHA:97283
Addison Disease
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decreased circulati... ORPHA:85138
Kaufman Oculocerebrofacial Syndrome
Microcornea, Astigmatism, Hypocholesterolemia, Failure to thrive OMIM:244450
Thymic Aplasia
Failure to thrive, Hypocalcemic tetany ORPHA:83471
Multiple Myeloma
Elevated circulating creatinine concentration, Weight loss, Hypercalcemia, Hyperproteinemia ORPHA:29073
Retinitis Pigmentosa 47
Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy OMIM:613758
Hypercalcemia ORPHA:98292
Charge Syndrome
Cataract, Hypocalcemia, Omphalocele, Umbilical hernia, Iris coloboma OMIM:214800
Subcutaneous lipoma, Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea ORPHA:97280
Subcutaneous lipoma, Increased circulating cortisol level, Weight loss, Hypercalcemia ORPHA:97261
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Hypophosphatemia, Hypercalcemia ORPHA:249
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormality iris morphology ORPHA:250999
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia, Weight loss ORPHA:88673
Tangier Disease
Hypocholesterolemia, Corneal opacity, Hypertriglyceridemia ORPHA:31150
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... ORPHA:67042
Multiple Endocrine Neoplasia Type 2
Prominent corneal nerve fibers, Hypercalcemia, Reduced subcutaneous adipose tissue ORPHA:653
Hypophosphatemic Rickets
Hypercalcemia, Odontodysplasia, Failure to thrive, Enthesitis, Hypophosphatemia ORPHA:437
Johanson-Blizzard Syndrome
Failure to thrive, Hypocalcemia, Increased VLDL cholesterol concentration, Small for gestational age OMIM:243800
Multiple Endocrine Neoplasia Type 4
Subcutaneous lipoma, Increased circulating cortisol level, Hypercalcemia ORPHA:276152
Pierson Syndrome
Hypoproteinemia, Uveal ectropion, Hypoplasia of the ciliary body, Hypoplasia of the iris, Catarac... OMIM:609049
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Williams Syndrome
Failure to thrive in infancy, Hypercalcemia, Posterior embryotoxon, Abnormal circulating lipid co... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Multiple lipomas, Hypercalcemia, Primary hypercortisolism, Weight loss, Increased circulating cor... ORPHA:652
Smith-Lemli-Opitz Syndrome
Failure to thrive, Cataract, Elevated 7-dehydrocholesterol, Hypocholesterolemia OMIM:270400
Uveitis, Hypercalcemia, Abnormal conjunctiva morphology, Cataract, Keratoconjunctivitis sicca, Sc... ORPHA:797
Oculodentodigital Dysplasia
Microcornea, Cataract, Abnormal dental enamel morphology, Camptodactyly of finger, Umbilical hern... ORPHA:2710
Williams-Beuren Syndrome
Flexion contracture, Failure to thrive in infancy, Hypercalcemia, Obesity, Blue irides, Inguinal ... OMIM:194050
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Inguinal hernia, Abnormality of connective tissue, Abnormality iris morphology ORPHA:91387
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Sotos Syndrome
Flexion contracture, Hypercalcemia, Bilateral camptodactyly, Cataract, Astigmatism, Ankle flexion... ORPHA:821
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with abnormal fundus, ... ORPHA:215
Oguchi Disease
Rod-cone dystrophy, Mizuo phenomenon, Macular degeneration, Congenital stationary night blindness ORPHA:75382
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Oguchi Disease 1
Congenital stationary night blindness OMIM:258100


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 Sag

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 Sag.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Sagtm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Sagtm1a(EUCOMM)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Sagtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Sagtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sagtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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