Gene Summary

Name:
zinc finger, MYM-type 4
Synonyms:
Zfp262,  6330503C17Rik

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
decreased circulating fructosamine level Zmym4em1(IMPC)Wtsi HET Early adult 2.23×10-06
increased circulating amylase level Zmym4em1(IMPC)Wtsi HET Early adult 8.92×10-05
decreased body length Zmym4em1(IMPC)Wtsi HET   Early adult 1.45×10-06
increased circulating HDL cholesterol level Zmym4em1(IMPC)Wtsi HET   Early adult 1.32×10-05
increased circulating calcium level Zmym4em1(IMPC)Wtsi HET Early adult 7.83×10-06
decreased bone mineral content Zmym4em1(IMPC)Wtsi HET   Early adult 3.76×10-05
increased circulating glycerol level Zmym4em1(IMPC)Wtsi HET Early adult 3.20×10-06
increased circulating cholesterol level Zmym4em1(IMPC)Wtsi HET   Early adult 1.35×10-06

Download data as:  TSV  XLS

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

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.

Phenotype associated images not available

Human diseases caused by Zmym4 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 Zmym4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Bone cyst ORPHA:2668
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypophosphatasia
Craniosynostosis, Hypercalcemia ORPHA:436
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Infantile Myofibromatosis
Hypercalcemia, Osteolysis, Bone cyst ORPHA:2591
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Hypocalcemia ORPHA:172
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Hyperc... OMIM:617994
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, Hypercalcemia OMIM:211900
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Hypercholesterolemia, Hyperuricemia, Hyperostosis frontalis interna ORPHA:77296
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Hypophosphatasia, Infantile
Unossified vertebral bodies, Elevated plasma pyrophosphate, Decreased calvarial ossification, Cra... OMIM:241500
Paget Disease Of Bone 2, Early-Onset
Sclerosis of skull base, Hypercalcemia, Osteolysis, Osteosclerosis of the ulna OMIM:602080
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia OMIM:618618
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia OMIM:179800
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic... ORPHA:93324
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Fibrous Dysplasia Of Bone
Rickets, Increased circulating cortisol level, Osteomalacia, Cortical irregularity, Fibrous dyspl... ORPHA:249
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia OMIM:600740
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypophosphatemia, Hypercalcemia OMIM:156400
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Generalized bone demineralizat... ORPHA:199299
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia ORPHA:89937
Laron Syndrome
Hypercholesterolemia ORPHA:633
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Bone cyst, Hypertriglyceridemia ORPHA:528
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Hypocalcemia, Hypophosphatemia, Bone cyst, Os... ORPHA:93160
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... ORPHA:36913
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:600081
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... ORPHA:94089
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronis... OMIM:601678
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, I... ORPHA:95409
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia ORPHA:398063
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Osteopenia, Hypercalcemia ORPHA:29073
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Acroosteolysis of distal phalanges (feet), Hyperchol... ORPHA:2457
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Addison Disease
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Generalized bone demineralizat... ORPHA:85138
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:264700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypercalcemia, Craniosynostosis, Hypertriglyceridemia ORPHA:369837
Kenny-Caffey Syndrome, Type 1
Decreased skull ossification, Hypocalcemia, Calvarial osteosclerosis, Hypomagnesemia OMIM:244460
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556037
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... ORPHA:79240
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Hypocalcemia ORPHA:53
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypercholesterolemia ORPHA:2479
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Pheochromocytoma
Hypercalcemia OMIM:171300
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... ORPHA:264580
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556030
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Hypercholesterolemia, Calc... OMIM:248370
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypocalcemia, Sparse bone trabeculae, Hyp... ORPHA:289157
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Neuhauser Syndrome
Osteopenia, Hypercholesterolemia OMIM:249310
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Osteopetrosis, Calvarial osteosclerosis, Craniosynostosis, Increased bone mineral d... OMIM:259700
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Lysinuric Protein Intolerance
Osteopenia, Intraalveolar phospholipid accumulation, Increased circulating ferritin concentration... ORPHA:470
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypophosphatemia, Hypercalcemia ORPHA:99880
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... ORPHA:90674
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr... OMIM:127000
Somatostatinoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97283
Vipoma
Hypokalemia, Hypercalcemia, Increased circulating cortisol level ORPHA:97282
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Parathyroid Carcinoma
Osteoporosis, Hypophosphatemia, Hypercalcemia ORPHA:143
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetrosis, Diaphysea... OMIM:618476
Oncogenic Osteomalacia
Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia ORPHA:352540
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Gracile Bone Dysplasia
Hypocalcemia, Decreased skull ossification OMIM:602361
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Glucagonoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97280
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Timothy Syndrome
Hypocalcemia OMIM:601005
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level ORPHA:913
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Celiac Disease, Susceptibility To, 1
Steatorrhea, Osteoporosis, Rickets, Hypocalcemia OMIM:212750
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Prader-Willi Syndrome
Osteopenia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, ... OMIM:176270
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Hypercalcemia, Primary hypercortisolism, Reduced bone miner... ORPHA:652
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Hyperbilirubinemia, Hypocalcemia, Osteopetrosis, Decreased osteoclast count... OMIM:259720
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased... ORPHA:79444
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Hypocalcemic tetany, Subcutaneous ossification, Hyperphosphatemia OMIM:103580
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemi... ORPHA:79259
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased... ORPHA:79443
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Williams Syndrome
Osteopenia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase concen... ORPHA:904
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Rickets, Osteomalacia, Elevated circulating creatine k... OMIM:309000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolem... ORPHA:534
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Hypocalcemia, Thin bony cortex, Unconjugated hyperbilirubin... OMIM:613658
Sarcoidosis
Hypercalcemia, Bone cyst ORPHA:797
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo... OMIM:248250
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Hypocalcemia, Abnormal bone ossification ORPHA:175
Williams-Beuren Syndrome
Osteoporosis, Osteopenia, Hypercalcemia OMIM:194050
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Osteopetrosis, Craniosynostosis, Reduced bone mineral density ORPHA:667
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Decreased skull ossification, Calvarial osteosclerosis, C... ORPHA:93325
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Steatorrhea ORPHA:699
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Primary hyperaldosteronism ORPHA:358
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Sotos Syndrome
Craniosynostosis, Hypercalcemia ORPHA:821
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Cranioectodermal Dysplasia 1
Osteoporosis, Sagittal craniosynostosis, Hypocalcemia OMIM:218330
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Hennekam Syndrome
Craniosynostosis, Hypocalcemia ORPHA:2136
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Increased circulating ferritin concentration, Elevated circulating c... OMIM:619534
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... OMIM:619991
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
22Q11.2 Deletion Syndrome
Hypocalcemia, Multiple suture craniosynostosis ORPHA:567
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Digeorge Syndrome
Hypocalcemia OMIM:188400
Charge Syndrome
Hypocalcemia OMIM:214800
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800

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 Zmym4

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 Zmym4.

There are 3 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) Zmym4em1(IMPC)Wtsi PMC7263671
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription. Cell metabolism (June 2020) Zmym4em1(IMPC)Wtsi PMC7267775
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Zmym4em1(IMPC)Wtsi PMC6671969

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zmym4tm36782(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zmym4em1(IMPC)Wtsi Deletion Mice

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