Tecta<tm3.1Gpr> Targeted Allele Detail MGI Mouse (MGI:5527094)

Tecta^tm3.1Gpr
Targeted Allele Detail

Summary

Symbol:	Tecta^tm3.1Gpr
Name:	tectorin alpha; targeted mutation 3.1, Guy P Richardson
MGI ID:	MGI:5527094
Synonyms:	Tecta^C1619S
Gene:	Tecta Location: Chr9:42240915-42311225 bp, - strand Genetic Position: Chr9, 23.63 cM
Alliance:	Tecta^tm3.1Gpr page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:203482
Parent Cell Line:	CCB (ES Cell)
Strain of Origin:	129S/SvEv-Gpi1^c

Mutation
description

Allele Type:		Targeted (Humanized sequence)
Mutations:		Insertion, Single point mutation
		Mutation details: Exon 14 was replaced with one in which a point mutation (G to C) results in the amino acid substitution of cysteine with serine at position 1619 (p.C1619S). Cre-mediated recombination removed the loxP site flanked neomycin resistance gene cassette that was also inserted. (J:203482)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

Phenotypes:

Affected Systems	hm1	ht2
show or hide all annotated terms
behavior/neurological		√
audiogenic seizures		√
hearing/vestibular/ear	√	√
abnormal cochlear hair cell stereociliary bundle morphology		√
abnormal Hensen stripe morphology		√
abnormal tectorial membrane morphology	√	√
abnormal tectorial membrane covernet morphology		√
abnormal tectorial membrane marginal band morphology		√
increased or absent threshold for auditory brainstem response		√
impaired hearing		√
nervous system		√
audiogenic seizures		√
abnormal cochlear hair cell stereociliary bundle morphology		√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht2
autosomal dominant nonsyndromic deafness 12 IDs autosomal dominant nonsyndromic deafness 12 DOID:0110544 ICD10CM:H90.3 OMIM:601543 Close	√

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Tecta Mutation:	133 strains or lines available

References

Original:	J:203482 Legan PK, et al., Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane. Hum Mol Genet. 2014 May 15;23(10):2551-68
All:	1 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24