Gene Summary

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

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
improved glucose tolerance Mpdzem1(IMPC)J HOM Early adult 7.41×10-06
abnormal retinal vasculature morphology Mpdzem1(IMPC)J HOM Early adult 2.54×10-16
abnormal auditory brainstem response Mpdzem1(IMPC)J HOM   Early adult 1.18×10-12
abnormal retina morphology Mpdzem1(IMPC)J HOM Early adult 1.12×10-05
decreased grip strength Mpdzem1(IMPC)J HOM Early adult 4.11×10-08
increased heart weight Mpdzem1(IMPC)J HOM Early adult 1.14×10-06
decreased startle reflex Mpdzem1(IMPC)J HOM   Early adult 1.03×10-05
abnormal retinal blood vessel morphology Mpdzem1(IMPC)J HOM Early adult 1.70×10-19

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.

Sleep Wake

Wake state (bmp file)

15 Images

Eye Morphology

Images Ophthalmoscopy

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

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

1 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
Macular hypoplasia, Optic atrophy, Sensorineural hearing impairment, Posteriorly rotated ears 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
Glucose intolerance, Impaired glucose tolerance, Hearing impairment, Optic atrophy, Diabetes mell... OMIM:614296
Abcd Syndrome
Hypopigmentation of the fundus, Hearing impairment, Abnormal auditory evoked potentials, Aganglio... OMIM:600501
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Sensorineural hea... OMIM:616648
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms, Exudative retinal detachment, Retinal detachment OMIM:614224
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Sensorineural hearing impairment, Type II diabetes ... OMIM:520000
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Usher Syndrome, Type Iv
Progressive sensorineural hearing impairment, Retinal atrophy, Retinal degeneration, Sensorineura... OMIM:618144
Bardet-Biedl Syndrome 2
Atrial septal defect, Retinal degeneration, Bicuspid aortic valve, Dilated cardiomyopathy, Diabet... OMIM:615981
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Retinal degeneration, Sensorineural hearin... OMIM:619260
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Mohr-Tranebjaerg Syndrome
Tremor, Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea m... ORPHA:52368
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Attrv30M Amyloidosis
Vitreous floaters, Abnormal autonomic nervous system physiology, Cardiomegaly, Cardiomyopathy ORPHA:85447
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
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, Cardiomegaly, Rod-cone dystrophy, Cardiom... OMIM:266500
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system p... OMIM:105210
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia OMIM:304900
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Optic disc pallor OMIM:619170
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic atrophy, Optic disc pallor ORPHA:320406
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Charcot-Marie-Tooth Disease Type 1F
Head tremor, Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve h... ORPHA:101085
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Autonomic bladder dysfunction, Orthostatic hypotension, Head titubation, Action tremor, A... ORPHA:99027
Cockayne Syndrome Type 1
Tremor, Pigmentary retinopathy, Macrotia, Hepatomegaly, Hearing impairment, Absent brainstem audi... ORPHA:90321
Sandhoff Disease
Orthostatic hypotension, Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenome... OMIM:268800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Opisthotonus, Hearing impairment, Decreased nerve... 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
Atrial septal defect, Myocardial fibrosis, Retinal dysplasia, Pulmonic stenosis, Exaggerated star... OMIM:253800
Teratoma, Pineal
Polydipsia OMIM:273120
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Cockayne Syndrome A
Tremor, Pigmentary retinopathy, Decreased nerve conduction velocity, Retinal pigment epithelial m... OMIM:216400
Cerebrotendinous Xanthomatosis
Abnormal atrial septum morphology, Hypermyelinated retinal nerve fibers, Resting tremor, Abnormal... ORPHA:909
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Cardiomegaly, Hypoglycemia OMIM:618838
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Cockayne Syndrome B
Tremor, Pigmentary retinopathy, Decreased nerve conduction velocity, Abnormality of the pinna, He... OMIM:133540
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
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
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Diabetes mellitus OMIM:184850
Trisomy 10P
Low voltage EEG, Macrotia, Abnormal heart morphology, EEG with burst suppression, Posteriorly rot... ORPHA:171929
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Nephronophthisis 4
Polydipsia OMIM:606966
Gm1 Gangliosidosis Type 1
Macrotia, Exaggerated startle response, Hearing impairment, Hepatosplenomegaly, Cherry red spot o... ORPHA:79255
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Sickle Cell Anemia
Hepatomegaly, Retinopathy, Cardiomegaly, Splenomegaly OMIM:603903
Nephronophthisis 3
Polydipsia OMIM:604387
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Plaa-Associated Neurodevelopmental Disorder
Hypsarrhythmia, Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural he... ORPHA:521426
Diabetes Insipidus, Nephrogenic, X-Linked
Polydipsia OMIM:304800
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Tay-Sachs Disease
Tremor, Hearing impairment, Exaggerated startle response, Optic atrophy, Cherry red spot of the m... ORPHA:845
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Nephronophthisis 1
Polydipsia OMIM:256100
Mend Syndrome
Aortic valve stenosis, Abnormal auditory evoked potentials, Abnormal heart morphology ORPHA:401973
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy OMIM:617527
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Nephronophthisis 11
Polydipsia OMIM:613550
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Helix Syndrome
Polydipsia OMIM:617671
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Ex... ORPHA:438213
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Macular hypoplasia, Optic atrophy, Sensorineural hearing impairment, Posteriorly rotated ears 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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