Gene Summary

Name:
multiple PDZ domain crumbs cell polarity complex component
Synonyms:
multiple PDZ domain protein,  B930003D11Rik,  MUPP1

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
abnormal retina morphology Mpdzem1(IMPC)J HOM Early adult 4.19×10-07
decreased startle reflex Mpdzem1(IMPC)J HOM   Early adult 1.01×10-05
increased circulating potassium level Mpdzem1(IMPC)J HOM   Early adult 4.79×10-05
decreased grip strength Mpdzem1(IMPC)J HOM Early adult 1.49×10-08
abnormal retina vasculature morphology Mpdzem1(IMPC)J HOM Early adult 2.79×10-16
improved glucose tolerance Mpdzem1(IMPC)J HOM Early adult 7.12×10-06
abnormal retina blood vessel morphology Mpdzem1(IMPC)J HOM Early adult 1.84×10-19
abnormal auditory brainstem response Mpdzem1(IMPC)J HOM   Early adult 3.50×10-12
increased heart weight Mpdzem1(IMPC)J HOM Early adult 1.16×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Eye Morphology

Images Ophthalmoscopy

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Sleep Wake

Wake state (bmp file)

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

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

3 Images

Human diseases caused by Mpdz mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mpdz by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Macular hypoplasia, Ch... OMIM:615219

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor OMIM:609153
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... ORPHA:52368
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra... OMIM:619260
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hypop... OMIM:600501
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Osteopetrosis, Autosomal Recessive 9
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Birk-Landau-Perez Syndrome
Dystonia, Hyperkalemia, Optic atrophy, Choreoathetosis, Increased circulating creatine kinase MB ... OMIM:617595
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level OMIM:610600
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Dystonia, Hypera... OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... OMIM:619170
Congenital Isolated Acth Deficiency
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures ORPHA:199296
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level ORPHA:556037
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:614736
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Abnormal autonomic nervous system physiology, Vitreous floaters ORPHA:85447
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level ORPHA:556030
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Nephronophthisis 2
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney OMIM:602088
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Refsum Disease, Classic
Cardiomegaly, Sensorineural hearing impairment, Elevated circulating phytanic acid concentration,... OMIM:266500
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Central Diabetes Insipidus
Polydipsia, Anorexia ORPHA:178029
Apparent Mineralocorticoid Excess
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level OMIM:218030
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment... ORPHA:79330
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Postprand... ORPHA:79102
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Late-Onset Isolated Acth Deficiency
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hyperuricemia, ... ORPHA:199299
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... OMIM:253800
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype... ORPHA:94093
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529799
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Tremor, Optic atrophy, Pigmentary retinopathy,... ORPHA:90321
Teratoma, Pineal
Polydipsia OMIM:273120
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Familial Glucocorticoid Deficiency
Hyponatremia, Ketotic hypoglycemia, Hyperkalemia, Hypoglycemic seizures, Hypertrophic cardiomyopathy ORPHA:361
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response, Mitral valve prolapse, Hepatosplenom... ORPHA:309155
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Cardiomegaly, Hepatosplenome... OMIM:268800
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Cystinosis
Type I diabetes mellitus, Hypokalemia, Retinopathy, Hypophosphatemia ORPHA:213
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Hearing impairment, Cardiomegaly OMIM:618838
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:309246
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Impaired glucose tolerance, Insulin resistance, Fast... ORPHA:769
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level ORPHA:427
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypokalemia, Hypertensive retinopathy, Decreased circulating renin ... ORPHA:320
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Glycosuria ORPHA:97362
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Familial Cold Urticaria
Polydipsia ORPHA:47045
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Cerebrotendinous Xanthomatosis
Optic disc pallor, Resting tremor, Optic neuropathy, Abnormal auditory evoked potentials, Abnorma... ORPHA:909
Mirage Syndrome
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:617053
Acute Adrenal Insufficiency
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circu... ORPHA:95409
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c... ORPHA:247691
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia ORPHA:90791
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Athetosis, Hypokalemia, Left ventricular hy... OMIM:615474
Ochoa Syndrome
Polydipsia ORPHA:2704
Cockayne Syndrome A
Hepatomegaly, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, De... OMIM:216400
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity OMIM:617864
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond... ORPHA:423
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Addison Disease
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circu... ORPHA:85138
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Splenomegaly, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Hypoglycemia ORPHA:90790
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Optic atrophy, Hepatos... ORPHA:845
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
East Syndrome
Sensorineural hearing impairment, Hypokalemia, Increased circulating renin level, Hypomagnesemia,... ORPHA:199343
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Bilateral sensorineural hearing impairment OMIM:602722
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia OMIM:613239
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Atrial septal defect, Patent foramen ovale, Hearing impairment OMIM:620327
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Liddle Syndrome
Hypokalemia ORPHA:526
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus OMIM:184850
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Athetosis, Hypokalemia, Tinnitus ORPHA:369929
Nephronophthisis 4
Polydipsia OMIM:606966
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Cockayne Syndrome B
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:133540
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Low-set ears, Dystonia, Cherry ... ORPHA:79255
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... OMIM:613095
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Fasting hypoglycemi... OMIM:227810
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypokalemia, Tinnitus ORPHA:251274
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy OMIM:617281
Romano-Ward Syndrome
Hypokalemia, Abnormal autonomic nervous system physiology, Hearing impairment ORPHA:101016
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Ethylene Glycol Poisoning
Facial palsy, Hyperkalemia, Hypocalcemia ORPHA:31826
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Recurrent hypoglycemia, Hyperkalemia ORPHA:293978
Bartter Syndrome, Type 3
Hyperchloriduria, Abnormal retinal vascular morphology, Hypokalemia, Increased circulating renin ... OMIM:607364
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypocalcemia ORPHA:544482
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly OMIM:611590
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Glycosuria OMIM:134600
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Glycosuria, Hypophosphatemia ORPHA:411629
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Optic atrophy, Hypokalemia, Hypocalcemia OMIM:617913
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Hepatosplenomegaly, Hypercholesterolemia ORPHA:275761
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Colchicine Poisoning
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc... ORPHA:31824
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Nephronophthisis 3
Polydipsia OMIM:604387
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Pearson Syndrome
Hepatomegaly, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Abnormal heart morphology, Hypopho... ORPHA:699
Familial Hyperaldosteronism Type Ii
Hypokalemia, Tinnitus ORPHA:404
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Diabetes mellitus, Splenomegaly, Retinal pigment epithelial mottling,... OMIM:219800
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Ab... ORPHA:401973
Mercury Poisoning
Tremor, Hypokalemia, Dystonia ORPHA:330021
Nephronophthisis 1
Polydipsia OMIM:256100
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Hypokalemia, Impaired glucose tolerance OMIM:219090
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Sensorineural hearing impairment, Hyperkalemia, Abnormal autonomic ... ORPHA:293987
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia ORPHA:223
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Tinnitus, Decreased circulating renin level ORPHA:231632
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia ORPHA:173
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617527
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Sensorineural hearing impairment, Hypokalemia, Increased circulating renin level, Hypomagnesemia,... OMIM:612780
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Gitelman Syndrome
Maternal diabetes, Pericardial effusion, Insulin resistance, Hypermagnesemia, Glucose intolerance... ORPHA:358
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia OMIM:613090
Nephronophthisis 11
Polydipsia OMIM:613550
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Nelson Syndrome
Hypokalemia, Optic nerve compression, Type II diabetes mellitus ORPHA:199244
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Tinnitus, Decreased circulating renin level ORPHA:231625
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Leprechaunism
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Protruding ear, Hypokalemia... ORPHA:508
Corticosteroid-Binding Globulin Deficiency
Hypokalemia OMIM:611489
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Hypo... ORPHA:411634
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia ORPHA:90794
Adrenocortical Carcinoma
Hypokalemia, Diabetes mellitus ORPHA:1501
Septo-Optic Dysplasia Spectrum
Polydipsia ORPHA:3157
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Whipple Disease
Polydipsia, Anorexia ORPHA:3452
Renal Hypoplasia
Polydipsia ORPHA:93101
Helix Syndrome
Polydipsia OMIM:617671
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Decreased circulating carnitine con... ORPHA:3337
Brain-Lung-Thyroid Syndrome
Hyperactivity, Abnormal drinking behavior, Compulsive behaviors, Abnormal eating behavior ORPHA:209905
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hypoglycemia, Simple ear, Hyperkalemia, Low-set ears, Conductive hearing impairment... OMIM:201750
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Hyperparathyroidism, Neonatal Severe
Polydipsia OMIM:239200
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration, Hearing impairment OMIM:619377
Senior-Boichis Syndrome
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:84081
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Bicuspid aortic valve, Ventricular septal defect... ORPHA:438213
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Tremor, Myocarditis, Increased circulating creatin... ORPHA:466677
Panhypophysitis
Polydipsia ORPHA:95513
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Low-set, posteriorly rotated ears, Hypoammonemia, Chorioretinal dysplasia, Protrudi... ORPHA:534
Gitelman Syndrome
Polydipsia, Salt craving OMIM:263800
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Low-set ears OMIM:170390
Bartter Syndrome Type 4
Hyponatremia, Protruding ear, Hypochloremia, Hypokalemia, Increased circulating renin level, Bila... ORPHA:89938
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia OMIM:602522
Oligomeganephronia
Polydipsia ORPHA:2260
Vipoma
Hepatomegaly, Hypokalemia, Diabetes mellitus, Hypercalcemia ORPHA:97282
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilate... OMIM:619573
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia ORPHA:537
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Marburg Hemorrhagic Fever
Pericarditis, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, ... ORPHA:99826
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90793
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Erdheim-Chester Disease
Polydipsia ORPHA:35687
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Hypoglycemia ORPHA:786
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Bicarbonaturia, Subvalvular aortic stenosis ORPHA:47159
Distal Renal Tubular Acidosis
Hypokalemia, Enlarged vestibular aqueduct, Sensorineural hearing impairment ORPHA:18
Wolfram Syndrome
Polydipsia ORPHA:3463
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Hypokalemia, Tremor ORPHA:91347
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Dysphagia ORPHA:99880
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Parathyroid Carcinoma
Polydipsia, Dysphagia ORPHA:143
Arima Syndrome
Polydipsia OMIM:243910
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Ventricular septal defect, Posteriorly rotated ears, Microtia, Low-... OMIM:619522
Autosomal Recessive Polycystic Kidney Disease
Polydipsia ORPHA:731
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Aplasia/Hypoplasia of the earlobes, Protruding ear, Mitral valve... ORPHA:286
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Macular hypoplasia, Ch... OMIM:615219

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 Mpdz

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 Mpdz.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Multiple PDZ domain protein maintains patterning of the apical cytoskeleton in sensory hair cells. Development (Cambridge, England) (July 2021) Mpdzem1(IMPC)J 34228789
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. European journal of human genetics : EJHG (June 2021) Mpdzem1(IMPC)J PMC8738740
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Mpdzem1J PMC5638796

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MGI Allele Allele Type Produced
Mpdzem1(IMPC)J Indel Mice

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