Type |
Details |
Score |
Publication |
First Author: |
Wang A |
Year: |
1998 |
Journal: |
Science |
Title: |
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. |
Volume: |
280 |
Issue: |
5368 |
Pages: |
1447-51 |
|
•
•
•
•
•
|
Publication |
First Author: |
Karolyi IJ |
Year: |
2003 |
Journal: |
Hum Mol Genet |
Title: |
Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia. |
Volume: |
12 |
Issue: |
21 |
Pages: |
2797-805 |
|
•
•
•
•
•
|
Allele |
Name: |
myosin XVA; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Publication |
First Author: |
Held N |
Year: |
2011 |
Journal: |
PLoS One |
Title: |
A mutation in Myo15 leads to Usher-like symptoms in LEW/Ztm-ci2 rats. |
Volume: |
6 |
Issue: |
3 |
Pages: |
e15669 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3511
|
Fragment?: |
false |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2306
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3493
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Grati M |
Year: |
2012 |
Journal: |
J Neurosci |
Title: |
Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. |
Volume: |
32 |
Issue: |
41 |
Pages: |
14288-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
Holme RH |
Year: |
2002 |
Journal: |
J Comp Neurol |
Title: |
Elongation of hair cell stereocilia is defective in the mouse mutant whirler. |
Volume: |
450 |
Issue: |
1 |
Pages: |
94-102 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mburu P |
Year: |
2003 |
Journal: |
Nat Genet |
Title: |
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. |
Volume: |
34 |
Issue: |
4 |
Pages: |
421-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mogensen MM |
Year: |
2007 |
Journal: |
Cell Motil Cytoskeleton |
Title: |
The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development. |
Volume: |
64 |
Issue: |
7 |
Pages: |
496-508 |
|
•
•
•
•
•
|
Publication |
First Author: |
de Nooij JC |
Year: |
2015 |
Journal: |
J Neurosci |
Title: |
The PDZ-domain protein Whirlin facilitates mechanosensory signaling in mammalian proprioceptors. |
Volume: |
35 |
Issue: |
7 |
Pages: |
3073-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mathur PD |
Year: |
2015 |
Journal: |
Hum Mol Genet |
Title: |
A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients. |
Volume: |
24 |
Issue: |
24 |
Pages: |
7017-30 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang L |
Year: |
2012 |
Journal: |
Hum Mol Genet |
Title: |
Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II. |
Volume: |
21 |
Issue: |
3 |
Pages: |
692-710 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ciardo MG |
Year: |
2016 |
Journal: |
Biochim Biophys Acta |
Title: |
Whirlin increases TRPV1 channel expression and cellular stability. |
Volume: |
1863 |
Issue: |
1 |
Pages: |
115-27 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mathur PD |
Year: |
2015 |
Journal: |
Hum Mol Genet |
Title: |
Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31. |
Volume: |
24 |
Issue: |
21 |
Pages: |
6213-28 |
|
•
•
•
•
•
|
Allele |
Name: |
whirlin; whirler |
Allele Type: |
Spontaneous |
|
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain |
|
•
•
•
•
•
|
Strain |
Attribute String: |
F1 hybrid, mutant stock |
|
•
•
•
•
•
|
Strain |
Attribute String: |
Not specified |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock |
|
•
•
•
•
•
|
Strain |
Attribute String: |
spontaneous mutation, congenic, mutant strain |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock |
|
•
•
•
•
•
|
Strain |
Attribute String: |
F1 hybrid, mutant stock |
|
•
•
•
•
•
|
Strain |
Attribute String: |
F1 hybrid, spontaneous mutation |
|
•
•
•
•
•
|
Publication |
First Author: |
LANE PW |
Year: |
1963 |
Journal: |
J Hered |
Title: |
WHIRLER MICE: A RECESSIVE BEHAVIOR MUTATION IN LINKAGE GROUP VIII. |
Volume: |
54 |
|
Pages: |
263-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ebrahim S |
Year: |
2016 |
Journal: |
Cell Rep |
Title: |
Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia. |
Volume: |
15 |
Issue: |
5 |
Pages: |
935-943 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sackler AM |
Year: |
1967 |
Journal: |
J Exp Zool |
Title: |
Metabolic and endocrine differences between the mutation whirler and normal female mice. |
Volume: |
164 |
Issue: |
2 |
Pages: |
133-40 |
|
•
•
•
•
•
|
Publication |
First Author: |
Paige AJ |
Year: |
2000 |
Journal: |
Mamm Genome |
Title: |
A deletion on chromosome 4 cosegregates with the whirler deafness mutation: exclusion of Orm1 as a candidate. |
Volume: |
11 |
Issue: |
1 |
Pages: |
51-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tian M |
Year: |
2014 |
Journal: |
Exp Eye Res |
Title: |
Photoreceptors in whirler mice show defective transducin translocation and are susceptible to short-term light/dark changes-induced degeneration. |
Volume: |
118 |
|
Pages: |
145-53 |
|
•
•
•
•
•
|
Publication |
First Author: |
British Society of Audiology short papers meeting on experimental studies of hearing and deafness. Cambridge, United Kingdom, 22-23 September 1996. Kiernan BW |
Year: |
1997 |
Journal: |
Br J Audiol |
Title: |
Analysis of the deaf mouse mutant, whirler. |
Volume: |
31 |
Issue: |
2 |
Pages: |
73-132 (84-5 Abstr.) |
|
•
•
•
•
•
|
Publication |
First Author: |
Weltman AS |
Year: |
1970 |
Journal: |
Physiol Behav |
Title: |
Metabolism rate, biochemical and endocrine alterations in male whirler mice. |
Volume: |
5 |
Issue: |
1 |
Pages: |
17-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kiernan BW |
Year: |
1998 |
Journal: |
Hered Deaf News |
Title: |
Abnormalities of the inner ear in a deaf mouse mutant whirler (wi). |
Volume: |
15 |
|
Pages: |
36-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rogers MJ |
Year: |
1999 |
Journal: |
Mamm Genome |
Title: |
Genetic mapping of the whirler mutation. |
Volume: |
10 |
Issue: |
5 |
Pages: |
513-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lewis MA |
Year: |
2009 |
Journal: |
Nat Genet |
Title: |
An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. |
Volume: |
41 |
Issue: |
5 |
Pages: |
614-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kim EJ |
Year: |
2019 |
Journal: |
Front Cell Neurosci |
Title: |
Impact of Auditory Experience on the Structural Plasticity of the AIS in the Mouse Brainstem Throughout the Lifespan. |
Volume: |
13 |
|
Pages: |
456 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Whrn/Whrn |
Background: |
involves: C57BL/6J * STOCK a Tyrp1 Myo5a Oca2 Ednrb |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Whrn/Whrn<+> |
Background: |
involves: C57BL/6J * STOCK a Tyrp1 Myo5a Oca2 Ednrb |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Whrn/Whrn |
Background: |
involves: STOCK a Tyrp1 Myo5a Oca2 Ednrb |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Rpe65<450L>/Rpe65<450L> Whrn/Whrn |
Background: |
129.Cg(B6)-Whrn |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Anderson DW |
Year: |
2000 |
Journal: |
Hum Mol Genet |
Title: |
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. |
Volume: |
9 |
Issue: |
12 |
Pages: |
1729-38 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zou J |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. |
Volume: |
23 |
Issue: |
9 |
Pages: |
2374-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Belyantseva IA |
Year: |
2005 |
Journal: |
Nat Cell Biol |
Title: |
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. |
Volume: |
7 |
Issue: |
2 |
Pages: |
148-56 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mburu P |
Year: |
2006 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Whirlin complexes with p55 at the stereocilia tip during hair cell development. |
Volume: |
103 |
Issue: |
29 |
Pages: |
10973-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kikkawa Y |
Year: |
2005 |
Journal: |
Hum Mol Genet |
Title: |
Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium. |
Volume: |
14 |
Issue: |
3 |
Pages: |
391-400 |
|
•
•
•
•
•
|
Publication |
First Author: |
Etournay R |
Year: |
2010 |
Journal: |
Development |
Title: |
Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape. |
Volume: |
137 |
Issue: |
8 |
Pages: |
1373-83 |
|
•
•
•
•
•
|
Publication |
First Author: |
Prosser HM |
Year: |
2008 |
Journal: |
Mol Cell Biol |
Title: |
Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia. |
Volume: |
28 |
Issue: |
5 |
Pages: |
1702-12 |
|
•
•
•
•
•
|
Allele |
Name: |
myosin XVA; shaker 2 Jackson |
Allele Type: |
Spontaneous |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Probst FJ |
Year: |
1998 |
Journal: |
Science |
Title: |
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. |
Volume: |
280 |
Issue: |
5368 |
Pages: |
1444-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Manor U |
Year: |
2011 |
Journal: |
Curr Biol |
Title: |
Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8. |
Volume: |
21 |
Issue: |
2 |
Pages: |
167-72 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant stock, coisogenic, spontaneous mutation |
|
•
•
•
•
•
|
Publication |
First Author: |
Fang Q |
Year: |
2015 |
Journal: |
Elife |
Title: |
The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing. |
Volume: |
4 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Cook SA |
Year: |
1993 |
Journal: |
Mouse Genome |
Title: |
Re-mutation to shaker-2 (sh-2) |
Volume: |
91 |
|
Pages: |
312 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Myo15a/Myo15a |
Background: |
involves: C57BL/6 * C57BLKS * FVB/N |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Tadenev ALD |
Year: |
2019 |
Journal: |
Curr Biol |
Title: |
GPSM2-GNAI Specifies the Tallest Stereocilia and Defines Hair Bundle Row Identity. |
Volume: |
29 |
Issue: |
6 |
Pages: |
921-934.e4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu R |
Year: |
2008 |
Journal: |
Development |
Title: |
Sisyphus, the Drosophila myosin XV homolog, traffics within filopodia transporting key sensory and adhesion cargos. |
Volume: |
135 |
Issue: |
1 |
Pages: |
53-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rehman AU |
Year: |
2016 |
Journal: |
Hum Mutat |
Title: |
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. |
Volume: |
37 |
Issue: |
10 |
Pages: |
991-1003 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
MyoXV is a MyTH-FERM myosin, which are actin-based motor proteins essential for a variety of biological processes in actin cytoskeleton function. Specifically MyoXV functions in the actin organization in hair cells of the organ of Corti. Mutations in human MyoXVa causes non-syndromic deafness, DFNB3 [], and the mouse shaker-2 mutation []. MyoXV consists of a N-terminal motor/head region, a neck made of 1-3 IQ motifs, and a tail that consists of either a myosin tail homology 4 (MyTH4) domain followed by an SH3 domain and a MyTH-FERM domain, as in rat Myo15, or two MyTH-FERM domains separated by a SH3 domain as in human Myo15A. The MyTH-FERM domains are thought to mediate dimerization and binding to other proteins or cargo [].The FERM domain has a cloverleaf tripart structure composed of: (1) FERM_N (A-lobe or F1); (2) FERM_M (B-lobe, or F2); and (3) FERM_C (C-lobe or F3) []. This entry represents the C-lobe of the Myo15 FERM domain. |
|
•
•
•
•
•
|
Publication |
First Author: |
McGrath J |
Year: |
2021 |
Journal: |
Curr Biol |
Title: |
Actin at stereocilia tips is regulated by mechanotransduction and ADF/cofilin. |
Volume: |
31 |
Issue: |
6 |
Pages: |
1141-1153.e7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cosgrove D |
Year: |
2014 |
Journal: |
Int J Biochem Cell Biol |
Title: |
Usher protein functions in hair cells and photoreceptors. |
Volume: |
46 |
|
Pages: |
80-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tepass U |
Year: |
2009 |
Journal: |
Curr Opin Genet Dev |
Title: |
FERM proteins in animal morphogenesis. |
Volume: |
19 |
Issue: |
4 |
Pages: |
357-67 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shanghai Model Organisms Center |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
|
|
|
|
•
•
•
•
•
|