Bbs9 MGI Mouse Gene Detail - MGI:2442833

Symbol

Bbs9
Name

Bardet-Biedl syndrome 9
Synonyms

E130103I17Rik, EST 3159894

Feature Type

protein coding gene
IDs

MGI:2442833
NCBI Gene: 319845
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr9:22387011-22799576 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 9.17 cM
Mapping Data

3 experiments

SNPs within 2kb

10812 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2442833	protein coding gene	Chr9:22386819-22799579 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034489	protein coding gene	Chr9:19795719-20215476 (+)
A/J	MGP_AJ_G0034467	protein coding gene	Chr9:19391359-19813882 (+)
AKR/J	MGP_AKRJ_G0034393	protein coding gene	Chr9:19788501-20199940 (+)
BALB/cJ	MGP_BALBcJ_G0034458	protein coding gene	Chr9:19271965-19683426 (+)
C3H/HeJ	MGP_C3HHeJ_G0034170	protein coding gene	Chr9:20097468-20529178 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034979	protein coding gene	Chr9:20591419-21044031 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031909	protein coding gene	Chr9:18492742-18899258 (+)
CAST/EiJ	MGP_CASTEiJ_G0033492	protein coding gene	Chr9:19945238-20375341 (+)
CBA/J	MGP_CBAJ_G0034143	protein coding gene	Chr9:21370930-21823711 (+)
DBA/2J	MGP_DBA2J_G0034301	protein coding gene	Chr9:19359694-19771023 (+)
FVB/NJ	MGP_FVBNJ_G0034244	protein coding gene	Chr9:18924451-19331979 (+)
LP/J	MGP_LPJ_G0034387	protein coding gene	Chr9:19982971-20408070 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034288	protein coding gene	Chr9:22943103-23375402 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034999	protein coding gene	Chr9:19744737-20180726 (+)
PWK/PhJ	MGP_PWKPhJ_G0033198	protein coding gene	Chr9:19385720-19797133 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033032	protein coding gene	Chr9:19797860-20225361 (+)
WSB/EiJ	MGP_WSBEiJ_G0033608	protein coding gene	Chr9:19490220-19915737 (+)

Human Ortholog

BBS9, Bardet-Biedl syndrome 9

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BBS9, Bardet-Biedl syndrome 9
Synonyms

B1, C18, D1, PTHB1
Links

HGNC:30000

NCBI Gene ID: 27241

neXtProt AC: NX_Q3SYG4

UniProt: Q3SYG4
Chr Location

7p14.3; chr7:33109557-33877180 (+) GRCh38

MGI Vertebrate Homology

Bbs9 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: BBS9
Gene Tree

Bbs9

Diseases

4 with human BBS9 associations

				Human Disease	Mouse Models
				Bardet-Biedl syndrome IDs Bardet-Biedl syndrome DOID:1935 ICD10CM:Q87.89 MESH:D020788 NCI:C118632 OMIM:PS209900 ORDO:110 UMLS_CUI:C0752166
				Bardet-Biedl syndrome 9 IDs Bardet-Biedl syndrome 9 DOID:0110131 ICD10CM:Q87.89 MESH:C565918 OMIM:615986
				craniosynostosis IDs craniosynostosis DOID:2340 ICD10CM:Q75.0 MESH:D003398 NCI:C84655 OMIM:123100 OMIM:182212 OMIM:600593 OMIM:600775 OMIM:604757 OMIM:615314 ORDO:1531 UMLS_CUI:C0010278
				primary ovarian insufficiency IDs primary ovarian insufficiency DOID:5426 ICD10CM:E28.3 MESH:D016649 NCI:C113352 OMIM:PS311360 ORDO:619 UMLS_CUI:C0085215

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

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
9 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

20
Chemically induced (ENU)

1
Endonuclease-mediated

2
Gene trapped

15
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

58 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for an ENU-induced allele exhibit abnormal pelvic girdle bone morphology, short tibia, increased body weight and increased body fat mass.

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All GO Annotations

23
GO References

17

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

843
Tissues

27
cDNA Data

44
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA BBS9

Xenbase bbs9

ZFIN bbs9

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All Sequences

85
RefSeq

26
UniProt

5
CCDS

CCDS22928.1, CCDS90520.1

Ensembl

ENSMUSG00000035919 (Evidence)
NCBI Gene

319845

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035919	Ensembl Gene Model \| MGI Sequence Detail	412566	C57BL/6J	± kb
transcript	ENSMUST00000147405	Ensembl \| MGI Sequence Detail	3045	Not Applicable
polypeptide	ENSMUSP00000120927	Ensembl \| MGI Sequence Detail	885	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000004670 protein PTHB1

(term hierarchy)
InterPro Domains

IPR026511 Parathyroid hormone-responsive B1

IPR028074 PTHB1, C-terminal domain

IPR028073 PTHB1, N-terminal domain
GlyGen

Q811G0 1 site, 1 O-linked glycan (1 site)

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All nucleic 46

cDNA 44

Primer pair 2

Microarray probesets 4

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MGI:1858602

Summaries

All 50

Developmental Gene Expression 5

Gene Ontology 17

Phenotypes 9
Earliest

J:62157 Thomas JW, et al., Comparative genome mapping in the sequence-based era: early experience with human chromosome 7. Genome Res. 2000 May;10(5):624-33
Latest

J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034

TSS for Bbs9:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr84094	Chr9:22386987-22387052 (+)	9 bp
Tssr84095	Chr9:22387069-22387082 (+)	65 bp
Tssr84096	Chr9:22387109-22387154 (+)	121 bp
Tssr84097	Chr9:22387168-22387185 (+)	166 bp
Tssr84098	Chr9:22554542-22554553 (+)	167,537 bp
Tssr84099	Chr9:22554567-22554584 (+)	167,565 bp
Tssr84100	Chr9:22566400-22566424 (+)	179,401 bp
Tssr84101	Chr9:22566429-22566438 (+)	179,423 bp
Tssr84102	Chr9:22566442-22566455 (+)	179,438 bp
Tssr84103	Chr9:22566616-22566619 (+)	179,607 bp
Tssr84104	Chr9:22590047-22590063 (+)	203,044 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)
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