Gene Summary

Name:
protocadherin 1
Synonyms:
2010005A06Rik

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 hair growth Pcdh1em1(IMPC)Wtsi HOM Early adult 5.39×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Pcdh1 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 Pcdh1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pili Gemini
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... ORPHA:79492
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ringed Hair
Abnormal hair morphology OMIM:180600
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... OMIM:117850
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Woolly Hair, Autosomal Dominant
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology OMIM:194300
Ectodermal Dysplasia 9, Hair/Nail Type
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail OMIM:614931
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Pili canaliculi OMIM:617252
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Hypotrichosis 12
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair OMIM:234030
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Sabinas Brittle Hair Syndrome
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy OMIM:211390
Hypotrichosis 7
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... OMIM:604379
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Sparse hair, Onychogryposis of toenails OMIM:164680
Hypotrichosis 13
Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes OMIM:615896
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... OMIM:614929
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Bjornstad Syndrome
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:262000
Pili Torti, Early-Onset
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:261900
Trichotillomania
Alopecia OMIM:613229
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770

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 Pcdh1

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 Pcdh1.

There are 2 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) Pcdh1em1(IMPC)Wtsi Pcdh15em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pcdh15em1(IMPC)Wtsi PMC6671969

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MGI Allele Allele Type Produced
Pcdh1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pcdh1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pcdh1tm199192(L1L2_Pgk_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Pcdh1em1(IMPC)Wtsi Deletion Mice

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