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Gene: Ptchd3 MGI:1921925

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Gene Summary

Name:
patched domain containing 3
Synonyms:
4930451E13Rik,  4933440L20Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
anophthalmia Ptchd3em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Ptchd3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Human diseases caused by Ptchd3 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 Ptchd3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Anencephaly 2
Anophthalmia OMIM:619452
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Trisomy 1Q
Anophthalmia ORPHA:261344
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Fibular Hemimelia
Anophthalmia ORPHA:93323
Holoprosencephaly
Microphthalmia, Anophthalmia ORPHA:2162
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:564
Joubert Syndrome 21
Anophthalmia OMIM:615636
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia OMIM:300166
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Charge Syndrome
Microphthalmia, Anophthalmia, Unilateral microphthalmos OMIM:214800
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800

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 Ptchd3

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 Ptchd3.

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

Title Journal IMPC Allele PubMed ID
Mouse Ptchd3 is a non-essential gene. Gene: X (March 2020) Ptchd3tm1a(KOMP)Wtsi PMC7285965
Mouse Ptchd3 is a non-essential gene. Gene (March 2020) Ptchd3tm1a(KOMP)Wtsi 34493359

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ptchd3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ptchd3em1(IMPC)Mbp Exon Deletion Mice, Tissue
Ptchd3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptchd3tm43047(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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