Gene Summary

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

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 grip strength Mpdzem1(IMPC)J HOM Early adult 1.48×10-08
increased heart weight Mpdzem1(IMPC)J HOM Early adult 1.14×10-06
abnormal retina morphology Mpdzem1(IMPC)J HOM Early adult 1.04×10-05
abnormal retina blood vessel morphology Mpdzem1(IMPC)J HOM Early adult 7.23×10-20
improved glucose tolerance Mpdzem1(IMPC)J HOM Early adult 1.32×10-05
abnormal retina vasculature morphology Mpdzem1(IMPC)J HOM Early adult 1.00×10-16
abnormal auditory brainstem response Mpdzem1(IMPC)J HOM   Early adult 3.50×10-12
decreased startle reflex Mpdzem1(IMPC)J HOM   Early adult 1.01×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

15 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

30 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
Sensorineural hearing impairment, Macular hypoplasia, Posteriorly rotated ears, Optic atrophy 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
Wolfram-Like Syndrome, Autosomal Dominant
Diabetes mellitus, Glucose intolerance, Impaired glucose tolerance, Optic atrophy, Hearing impair... OMIM:614296
Abcd Syndrome
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Aganglionic megacolon, Heari... OMIM:600501
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Optic Atrophy 8
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonged somatosensory ev... OMIM:616648
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Diabetes mellitus, ... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Retinal Venous Beading
Retinal neovascularization, Abnormal distribution of retinal arterioles and venules, Vitreous hem... OMIM:180080
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Dystonia, Generalized dystonia, Focal dystonia, P... ORPHA:52368
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Sensorineural hearing impairment, Geographic atrophy, Abnormal auditory evo... OMIM:619260
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Vitreous floaters ORPHA:85447
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Refsum Disease, Classic
Retinal degeneration, Sensorineural hearing impairment, Rod-cone dystrophy, Cardiomyopathy, Cardi... OMIM:266500
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Amyloid deposition in the vitreous humor, Cardiomyo... OMIM:105210
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Mogs-Cdg
Cardiomegaly, Dystonia, Hepatosplenomegaly, Atrial septal defect, Sensorineural hearing impairmen... ORPHA:79330
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia OMIM:304900
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Optic atrophy, Exaggerated startle response ORPHA:320406
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Optic nerve hypoplasia, Decreased ner... ORPHA:101085
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Action tremor... ORPHA:99027
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Cockayne Syndrome Type 1
Hearing impairment, Hepatomegaly, Pigmentary retinopathy, Macrotia, Absent brainstem auditory res... ORPHA:90321
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly, Exagger... OMIM:268800
Infantile Krabbe Disease
Cherry red spot of the macula, Opisthotonus, Decreased nerve conduction velocity, Prolonged brain... ORPHA:206436
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Head titubation ORPHA:3240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Atrial septal defect, Retinal detachment, Retinal dysplasia, Pulmonic ste... OMIM:253800
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Dystonia, Exaggerated startle response ORPHA:309246
Teratoma, Pineal
Polydipsia OMIM:273120
Mody
Glycosuria, Retinopathy, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Transient ne... ORPHA:552
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Dystonia, Resting tremor, Optic neuropathy, Decre... ORPHA:909
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Cockayne Syndrome A
Sensorineural hearing impairment, Splenomegaly, Hepatomegaly, Decreased nerve conduction velocity... OMIM:216400
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Retinal neovascularization, Macular edema, Cardiomyopathy, Abnormal ret... ORPHA:247691
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia, Hearing impairment OMIM:618838
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Stiff Person Spectrum Disorder
Diabetes mellitus, Exaggerated startle response ORPHA:3198
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Cockayne Syndrome B
Sensorineural hearing impairment, Splenomegaly, Hepatomegaly, Decreased nerve conduction velocity... OMIM:133540
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hepatosplenomegaly, Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic n... OMIM:609136
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Ochoa Syndrome
Polydipsia ORPHA:2704
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Abnormal heart mor... ORPHA:171929
Stiff-Person Syndrome
Opisthotonus, Diabetes mellitus, Exaggerated startle response OMIM:184850
Nephronophthisis 4
Polydipsia OMIM:606966
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Hepatosplenomegaly, Low-set ears, Cardiomyopathy, Macrotia, Exagge... ORPHA:79255
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Tay-Sachs Disease
Cherry red spot of the macula, Dystonia, Laryngeal dystonia, Exaggerated startle response, Optic ... ORPHA:845
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Sensorineural hearing impairment, Low-set, posteriorly rotated ears, Exaggerated startl... ORPHA:521426
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Asparagine Synthetase Deficiency
Macrotia, Hypsarrhythmia, Exaggerated startle response OMIM:615574
Nephronophthisis 3
Polydipsia OMIM:604387
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Nephronophthisis 1
Polydipsia OMIM:256100
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Mend Syndrome
Abnormal auditory evoked potentials, Abnormal heart morphology, Aortic valve stenosis, Low-set ears ORPHA:401973
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Posteriorly rotated ears, Low-set ears, Exaggerated startle response OMIM:617527
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Nephronophthisis 11
Polydipsia OMIM:613550
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Dystonia, Exaggerated startle response ORPHA:438216
Helix Syndrome
Polydipsia OMIM:617671
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Patent foramen ovale, Atrial septal defect, Pulmonic stenosis, Abnormal heart morpholog... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Low-set ears, Atrial septal defect, Microtia, Posteriorly rotated ears, Ventricula... OMIM:619522
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Sensorineural hearing impairment, Macular hypoplasia, Posteriorly rotated ears, Optic atrophy 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 2 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
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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