Ttc8 MGI Mouse Gene Detail - MGI:1923510 - tetratricopeptide repeat domain 8

Symbol

Ttc8
Name

tetratricopeptide repeat domain 8
Synonyms

0610012F22Rik, BBS8

Feature Type

protein coding gene
IDs

MGI:1923510
NCBI Gene: 76260
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr12:98886833-98949497 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 49.88 cM
Mapping Data

2 experiments

SNPs within 2kb

2107 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923510	protein coding gene	Chr12:98886796-98949509 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020010	protein coding gene	Chr12:100332460-100387629 (+)
A/J	MGP_AJ_G0019965	protein coding gene	Chr12:96565483-96624626 (+)
AKR/J	MGP_AKRJ_G0019941	protein coding gene	Chr12:99171542-99227145 (+)
BALB/cJ	MGP_BALBcJ_G0019951	protein coding gene	Chr12:96905771-96963380 (+)
C3H/HeJ	MGP_C3HHeJ_G0019753	protein coding gene	Chr12:99713177-99778084 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020400	protein coding gene	Chr12:103396218-103469575 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018014	protein coding gene	Chr12:93530349-93591727 (+)
CAST/EiJ	MGP_CASTEiJ_G0019299	protein coding gene	Chr12:94774676-94838020 (+)
CBA/J	MGP_CBAJ_G0019725	protein coding gene	Chr12:107232697-107300304 (+)
DBA/2J	MGP_DBA2J_G0019836	protein coding gene	Chr12:95985058-96045648 (+)
FVB/NJ	MGP_FVBNJ_G0019825	protein coding gene	Chr12:94705164-94760462 (+)
LP/J	MGP_LPJ_G0019912	protein coding gene	Chr12:100161618-100221622 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019867	protein coding gene	Chr12:110912986-110977495 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020429	protein coding gene	Chr12:98737360-98794804 (+)
PWK/PhJ	MGP_PWKPhJ_G0019063	protein coding gene	Chr12:90602808-90665846 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018859	protein coding gene	Chr12:92897994-92958289 (+)
WSB/EiJ	MGP_WSBEiJ_G0019353	protein coding gene	Chr12:99565750-99627126 (+)

Human Ortholog

TTC8, tetratricopeptide repeat domain 8

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TTC8, tetratricopeptide repeat domain 8
Synonyms

BBS8, RP51
Links

HGNC:20087

NCBI Gene ID: 123016

neXtProt AC: NX_Q8TAM2

UniProt: Q8TAM2
Chr Location

14q31.3; chr14:88824153-88881079 (+) GRCh38

MGI Vertebrate Homology

Ttc8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TTC8
Gene Tree

Ttc8

Diseases

1 with Ttc8 mouse models; 3 with human TTC8 associations

Human Disease

Mouse Models

Bardet-Biedl syndrome 8

IDs

View 1 model

Bardet-Biedl syndrome

IDs

retinitis pigmentosa 51

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

9 phenotypes from 1 allele in 1 genetic background
2 phenotypes from multigenic genotypes
4 images
18 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

9
Chemically induced (other)

1
Endonuclease-mediated

2
Targeted

6
Genomic Mutations

1 involving Ttc8
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

34 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null mutation display partial postnatal lethality with slow postnatal weight gain, age related obesity, impaired olfation, loss of cilia from the olfactory epithelium, impaired targeting of olfactory sensory neuron axons, retinal degeneration, and mild renal tubule dilation.

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All GO Annotations

45
GO References

23

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

754
Tissues

14
cDNA Data

37
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ttc8

ZFIN ttc8

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All Sequences

50
RefSeq

8
UniProt

2
CCDS

CCDS26101.1, CCDS26102.1

Ensembl

ENSMUSG00000021013 (Evidence)
NCBI Gene

76260

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021013	Ensembl Gene Model \| MGI Sequence Detail	62665	C57BL/6J	± kb
transcript	ENSMUST00000079146	Ensembl \| MGI Sequence Detail	2270	Not Applicable
polypeptide	ENSMUSP00000078148	Ensembl \| MGI Sequence Detail	515	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000016783 tetratricopeptide repeat protein 8

(term hierarchy)
InterPro Domains

IPR011990 Tetratricopeptide-like helical domain superfamily

IPR019734 Tetratricopeptide repeat

IPR028796 Tetratricopeptide repeat protein 8

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All nucleic 37

cDNA 37

Microarray probesets 3

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MGI:2144973

Summaries

All 60

Developmental Gene Expression 4

Diseases 1

Gene Ontology 23

Phenotypes 18
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:307314 Pak TK, et al., A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment. PLoS Genet. 2021 Apr;17(4):e1009484

TSS for Ttc8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr114655	Chr12:98886790-98886812 (+)	-32 bp
Tssr114656	Chr12:98886826-98886878 (+)	19 bp
Tssr114657	Chr12:98886879-98886893 (+)	53 bp
Tssr114658	Chr12:98886903-98886921 (+)	79 bp
Tssr114659	Chr12:98916358-98916375 (+)	29,534 bp

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 11/19/2024 MGI 6.24