Type |
Details |
Score |
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
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Title: |
GemPharmatech Website. |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
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Title: |
MGI Sequence Curation Reference |
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Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
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Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
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Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
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Title: |
Annotation inferences using phylogenetic trees |
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
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Publication |
First Author: |
Yu X |
Year: |
2020 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding. |
Volume: |
117 |
Issue: |
47 |
Pages: |
29894-29903 |
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Allele |
Name: |
transmembrane channel-like gene family 1; endonuclease-mediated mutation 4, Robert Fettiplace |
Allele Type: |
Endonuclease-mediated |
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Allele |
Name: |
transmembrane channel-like gene family 1; endonuclease-mediated mutation 1, Robert Fettiplace |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Humanized sequence |
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Allele |
Name: |
transmembrane channel-like gene family 1; endonuclease-mediated mutation 5, Robert Fettiplace |
Allele Type: |
Endonuclease-mediated |
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Allele |
Name: |
transmembrane channel-like gene family 1; endonuclease-mediated mutation 2, Robert Fettiplace |
Allele Type: |
Endonuclease-mediated |
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Allele |
Name: |
Tmc1 modifier 1; C57BL/6J |
Allele Type: |
QTL |
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Allele |
Name: |
Tmc1 modifier 1; C3HeB/FeJ |
Allele Type: |
QTL |
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Allele |
Name: |
Tmc1 modifier 3; DBA/2J |
Allele Type: |
QTL |
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Allele |
Name: |
Tmc1 modifier 3; C3HeB/FeJ |
Allele Type: |
QTL |
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Allele |
Name: |
Tmc1 modifier 2; C3HeB/FeJ |
Allele Type: |
QTL |
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Allele |
Name: |
Tmc1 modifier 2; DBA/2J |
Allele Type: |
QTL |
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Allele |
Name: |
Tmc1 modifier 4; DBA/2J |
Allele Type: |
QTL |
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Allele |
Name: |
Tmc1 modifier 4; C3HeB/FeJ |
Allele Type: |
QTL |
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Allele |
Name: |
transmembrane channel-like gene family 1; endonuclease-mediated mutation 3, Robert Fettiplace |
Allele Type: |
Endonuclease-mediated |
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Allele |
Name: |
transmembrane channel-like gene family 1; deafness |
Allele Type: |
Spontaneous |
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Allele |
Name: |
transmembrane channel-like gene family 1; Martin Hrabe de Angelis beethoven |
Allele Type: |
Chemically induced (ENU) |
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Allele |
Name: |
transmembrane channel-like gene family 1; stitch |
Allele Type: |
Chemically induced (ENU) |
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Allele |
Name: |
transmembrane channel-like gene family 1; nice |
Allele Type: |
Chemically induced (ENU) |
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Allele |
Name: |
transmembrane channel-like gene family 1; baringo |
Allele Type: |
Chemically induced (ENU) |
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Genotype |
Symbol: |
Tmc1/Tmc1<+> Tmc1m1/? |
Background: |
involves: C3HeB/FeJ * C57BL/6J |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Tmc1/Tmc1<+> Tmc1m2/? |
Background: |
involves: C3HeB/FeJ * DBA/2J |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Tmc1/Tmc1<+> Tmc1m3/? |
Background: |
involves: C3HeB/FeJ * DBA/2J |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Tmc1/Tmc1<+> Tmc1m4/? |
Background: |
involves: C3HeB/FeJ * DBA/2J |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Tmc1/Tmc1 |
Background: |
involves: C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Tmc1/Tmc1 |
Background: |
involves: C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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•
•
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Genotype |
Symbol: |
Tmc1/Tmc1 |
Background: |
involves: C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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DO Term |
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DO Term |
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Genotype |
Symbol: |
Tmc1/Tmc1<+> |
Background: |
C3HeB/FeJ-Tmc1/Ieg |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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•
•
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Genotype |
Symbol: |
Tmc1/Tmc1 |
Background: |
STOCK Grhl3/J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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•
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Genotype |
Symbol: |
Tmc1/Tmc1 |
Background: |
involves: STOCK Grhl3 * M. m. molossinus |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Publication |
First Author: |
Qiu X |
Year: |
2023 |
Journal: |
Cell Rep |
Title: |
The tetraspan LHFPL5 is critical to establish maximal force sensitivity of the mechanotransduction channel of cochlear hair cells. |
Volume: |
42 |
Issue: |
3 |
Pages: |
112245 |
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Publication |
First Author: |
Zhang X |
Year: |
2024 |
Journal: |
Cell Rep |
Title: |
TMC7 functions as a suppressor of Piezo2 in primary sensory neurons blunting peripheral mechanotransduction. |
Volume: |
43 |
Issue: |
4 |
Pages: |
114014 |
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Publication |
First Author: |
Haywood-Watson RJ 2nd |
Year: |
2006 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. |
Volume: |
47 |
Issue: |
7 |
Pages: |
3074-84 |
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•
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Publication |
First Author: |
Pepermans E |
Year: |
2014 |
Journal: |
EMBO Mol Med |
Title: |
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells. |
Volume: |
6 |
Issue: |
7 |
Pages: |
984-92 |
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Publication |
First Author: |
Zheng QY |
Year: |
2005 |
Journal: |
Hum Mol Genet |
Title: |
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. |
Volume: |
14 |
Issue: |
1 |
Pages: |
103-11 |
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Publication |
First Author: |
Washington JL 3rd |
Year: |
2005 |
Journal: |
Hear Res |
Title: |
Characterization of a new allele of Ames waltzer generated by ENU mutagenesis. |
Volume: |
202 |
Issue: |
1-2 |
Pages: |
161-9 |
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Protein Domain |
Type: |
Family |
Description: |
Protocadherin-15 (Pcdh15) belongs to the epsilon subfamily of nonclustered protocadherins. It is a component of the tip-links, the extracellular filaments that connect the tips of stereocilia and gate hair cell mechano-electrical transduction channels in the inner ear []. Pcdh15 interacts with transmembrane channel-like proteins TMC1 and TMC2, which have been implicated in mechanotransduction in mammalian hair cells []. Mutations in genes coding for Pcdh15 cause deafness in both mice and humans [, ]. Pcdh15 plays an important role in hair-bundle morphogenesis [].The cadherin family consists of a large group of cell adhesion proteins. It can be classified into three subfamilies: classical cadherins, desmosomal cadherins and protocadherins (PCDHs). Based on the genomic structure, the PCDH family can be divided into two groups, clustered PCDHs and non-clustered PCDHs. Non-clustered PCDHs can be further classified into three subgroups: delta1 (PCDH1, PCDH7, PCDH9, PCDH11 and PCDH20), delta2 (PCDH8, PCDH10, PCDH12, PCDH17, PCDH18 and PCDH19) and epsilon (PCDH15, PCDH16, PCDH21 and MUCDHL). Non-clustered PCDHs are expressed predominantly in the nervous system and have spatiotemporally diverse expression patterns []. |
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Publication |
First Author: |
Yeh WH |
Year: |
2020 |
Journal: |
Sci Transl Med |
Title: |
In vivo base editing restores sensory transduction and transiently improves auditory function in a mouse model of recessive deafness. |
Volume: |
12 |
Issue: |
546 |
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•
•
•
•
•
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Publication |
First Author: |
Boucher S |
Year: |
2020 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis. |
Volume: |
117 |
Issue: |
49 |
Pages: |
31278-31289 |
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•
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•
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Publication |
First Author: |
An Y |
Year: |
2024 |
Journal: |
Front Pharmacol |
Title: |
The transmembrane channel-like 6 (TMC6) in primary sensory neurons involving thermal sensation via modulating M channels. |
Volume: |
15 |
|
Pages: |
1330167 |
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•
•
•
•
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Publication |
First Author: |
Johnson KR |
Year: |
2015 |
Journal: |
Mamm Genome |
Title: |
A QTL on Chr 5 modifies hearing loss associated with the fascin-2 variant of DBA/2J mice. |
Volume: |
26 |
Issue: |
7-8 |
Pages: |
338-47 |
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•
•
•
•
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Publication |
First Author: |
Mahendrasingam S |
Year: |
2017 |
Journal: |
PLoS One |
Title: |
Spatiotemporal changes in the distribution of LHFPL5 in mice cochlear hair bundles during development and in the absence of PCDH15. |
Volume: |
12 |
Issue: |
10 |
Pages: |
e0185285 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1943
|
Fragment?: |
false |
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•
•
•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1783
|
Fragment?: |
false |
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•
•
•
•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1865
|
Fragment?: |
false |
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•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1333
|
Fragment?: |
true |
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•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1714
|
Fragment?: |
false |
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•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1675
|
Fragment?: |
false |
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•
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•
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Publication |
First Author: |
Kim SY |
Year: |
2011 |
Journal: |
Cell Adh Migr |
Title: |
Non-clustered protocadherin. |
Volume: |
5 |
Issue: |
2 |
Pages: |
97-105 |
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