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Search results 1401 to 1434 out of 1434 for Myo7a

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Type

Details

Score

Genotype

Symbol:	Myo7a/Myo7a
Background:	involves: C57BL/6J
Zygosity:	hm
Has Mutant Allele:	true

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DO Term

DOID:0110477 | autosomal recessive nonsyndromic deafness 2

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GXD Expression

Probe:	MGI:6393608
Assay Type:	Immunohistochemistry
Annotation Date:	2020-03-10
Strength:	Present
Sex:	Not Specified
Emaps:	EMAPS:1698219
Pattern:	Regionally restricted
Stage:	TS19
Assay Id:	MGI:6393618
Age:	embryonic day 11.5
Image:	4F inset
Note:	Co-expression with Myo7a in subset of Neurod1-expressing cells in cochleovestibular ganglion.
Specimen Label:	4F inset
Detected:	true
Specimen Num:	4

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GXD Expression

Probe:	MGI:7354987
Assay Type:	Immunohistochemistry
Annotation Date:	2022-10-19
Strength:	Present
Sex:	Not Specified
Emaps:	EMAPS:1906127
Pattern:	Regionally restricted
Stage:	TS27
Assay Id:	MGI:7356365
Age:	postnatal day 1

Note:	Expression in organ of Corti in both cytoplasm and nucleus of inner cells and outer hair cells, co-expressed with Myo7a
Specimen Label:	2C
Detected:	true
Specimen Num:	12

•

GXD Expression

Probe:	MGI:7354987
Assay Type:	Immunohistochemistry
Annotation Date:	2022-10-19
Strength:	Present
Sex:	Not Specified
Emaps:	EMAPS:1906127
Pattern:	Regionally restricted
Stage:	TS27
Assay Id:	MGI:7356365
Age:	postnatal day 1

Note:	Expression in organ of Corti in both cytoplasm and nucleus of inner cells and outer hair cells, co-expressed with Myo7a
Specimen Label:	2C
Detected:	true
Specimen Num:	12

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Allele

Myo7a<sh1-6R> | MGI:3622651

Name:	myosin VIIA; shaker 1, 6 Oak Ridge
Allele Type:	Chemically induced (ENU)

•

Allele

Hprt1<tm2Brd> | MGI:3776895

Name:	hypoxanthine phosphoribosyltransferase 1; targeted mutation 2, Allan Bradley
Allele Type:	Targeted
Attribute String:	Null/knockout, Reporter

•

DO Term

DOID:0110543 | autosomal dominant nonsyndromic deafness 11

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Allele

Myo7a<Hdb> | MGI:3511858

Name:	myosin VIIA; headbanger
Allele Type:	Chemically induced (ENU)

•

Strain

MGI:5561057 | C3;129S7-Hprt1<tm2Brd>/Biat

Attribute String:

targeted mutation

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Strain

MGI:5491884 | C3HeB/FeJ-Myo7a<Hdb>/Ieg

Attribute String:

mutant strain, coisogenic, chemically induced mutation

•

Genotype

Symbol:	Myo7a/Myo7a
Background:	C3HeB/FeJ-Myo7a/Ieg
Zygosity:	hm
Has Mutant Allele:	true

•

Genotype

Symbol:	Myo7a/Myo7a<+>
Background:	C3HeB/FeJ-Myo7a/Ieg
Zygosity:	ht
Has Mutant Allele:	true

•

Publication

12588794 | J:82023

First Author:	Weil D
Year:	2003
Journal:	Hum Mol Genet
Title:	Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
Volume:	12
Issue:	5
Pages:	463-71

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Publication

20142502 | -

First Author:	Yan J
Year:	2010
Journal:	Proc Natl Acad Sci U S A
Title:	The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.
Volume:	107
Issue:	9
Pages:	4040-5

•

Publication

24608321 | J:210992

First Author:	Bauß K
Year:	2014
Journal:	Hum Mol Genet
Title:	Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
Volume:	23
Issue:	15
Pages:	3923-42

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Protein Domain

IPR037602 | USH1G_SAM

Type:

Domain

Description:

pre-mRNA splicing regulator USH1G (also known as SANS) is a multifunctional scaffold protein. It regulates Magi2-mediated endocytosis []and interacts with MYO7A and USH1C []. Mice lacking USH1G exhibit a loss of tip-links, defects in stereocilia morphology and organization, loss of mechanotransduction currents, and perturbations to hearing and balance []. Mutations in human USH1G gene cause Usher syndrome 1G (USH1G), a genetically heterogeneous condition characterised by the association of retinitis pigmentosa with sensorineural deafness []. USH1G has an N-terminal ankyrin repeat region and a C-terminal SAM domain []. The SAM domain is a putative protein-protein interaction domain.

•

Genotype

Symbol:	Myo7a/Myo7a<4626SB>
Background:	involves: BALB/c * 47BS/Rl * C3HeB/FeJ * CBA/Ca
Zygosity:	ht
Has Mutant Allele:	true

•

Genotype

Symbol:	Hprt1/Hprt1<+> Myo7a<4626SB>/Myo7a<4626SB>
Background:	involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca
Zygosity:	cx
Has Mutant Allele:	true

•

Publication

35962067 | J:345076

First Author:	Ballesteros A
Year:	2022
Journal:	Sci Rep
Title:	Selective binding and transport of protocadherin 15 isoforms by stereocilia unconventional myosins in a heterologous expression system.
Volume:	12
Issue:	1
Pages:	13764

•

Strain

MGI:3622653 | STOCK a/a Oca2<p-7R> Myo7a<sh1-6R>/In(7)4Rl +/R

Attribute String:

inversion, mutant stock, chemically induced mutation, radiation induced mutation, chromosome aberration

•

Publication

21709241 | J:174394

First Author:	Grati M
Year:	2011
Journal:	Proc Natl Acad Sci U S A
Title:	Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction.
Volume:	108
Issue:	28
Pages:	11476-81

•

Publication

11138009 | J:66740

First Author:	Bolz H
Year:	2001
Journal:	Nat Genet
Title:	Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Volume:	27
Issue:	1
Pages:	108-12

•

Publication

19457086 | J:150858

First Author:	Fernández-Medarde A
Year:	2009
Journal:	J Neurochem
Title:	RasGRF1 disruption causes retinal photoreception defects and associated transcriptomic alterations.
Volume:	110
Issue:	2
Pages:	641-52

•

Publication

24259566 | J:204163

First Author:	Gilels F
Year:	2013
Journal:	J Neurosci
Title:	Mutation of Foxo3 causes adult onset auditory neuropathy and alters cochlear synapse architecture in mice.
Volume:	33
Issue:	47
Pages:	18409-24

•

Publication

9070921 | J:38566

First Author:	Kelley PM
Year:	1997
Journal:	Genomics
Title:	The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).
Volume:	40
Issue:	1
Pages:	73-9

•

Publication

29167268 | J:256072

First Author:	Xiong A
Year:	2018
Journal:	J Biol Chem
Title:	The shaker-1 mouse myosin VIIa deafness mutation results in a severely reduced rate of the ATP hydrolysis step.
Volume:	293
Issue:	3
Pages:	819-829

•

Publication

29361540 | J:257650

First Author:	Liu Y
Year:	2018
Journal:	J Cell Sci
Title:	Unconventional myosin VIIA promotes melanoma progression.
Volume:	131
Issue:	4

•

Publication

33400922 | J:315709

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

21311020 | -

First Author:	Wu L
Year:	2011
Journal:	Science
Title:	Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.
Volume:	331
Issue:	6018
Pages:	757-60

•

Publication

23457544 | J:197180

First Author:	Buniello A
Year:	2013
Journal:	PLoS One
Title:	Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness.
Volume:	8
Issue:	2
Pages:	e56274

•

Publication

9171833 | J:40770

First Author:	Weil D
Year:	1997
Journal:	Nat Genet
Title:	The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.
Volume:	16
Issue:	2
Pages:	191-3

•

Protein

Q80T11

Organism:	Mus musculus/domesticus
Length:	461
Fragment?:	false

•

Protein

Q0VBT9

Organism:	Mus musculus/domesticus
Length:	461
Fragment?:	false

•

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