Ca8 MGI Mouse Gene Detail - MGI:88253

Symbol

Ca8
Name

carbonic anhydrase 8
Synonyms

Cals1, Car8, Carp, CA-RP VIII, wdl

Feature Type

protein coding gene
IDs

MGI:88253
NCBI Gene: 12319
Alliance

genome feature page
Transcription Start Sites

2 TSS

Sequence Map

Chr4:8143362-8239041 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 3.53 cM
Mapping Data

6 experiments

SNPs within 2kb

3345 from dbSNP Build 142
Strain Annotations

19
PCR

1
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88253	protein coding gene	Chr4:8141491-8239226 (-)
129S1/SvImJ	ENSMUSG00200000722	protein coding gene	Chr4:4773562-4869131 (-)
A/J	ENSMUSG00195002802	protein coding gene	Chr4:5206514-5296371 (-)
AKR/J	ENSMUSG00220001065	protein coding gene	Chr4:4980387-5075976 (-)
BALB/cJ	ENSMUSG00180004521	protein coding gene	Chr4:4760118-4855693 (-)
C3H/HeJ	ENSMUSG00175016965	protein coding gene	Chr4:5279825-5375402 (-)
C57BL/6NJ	ENSMUSG00215004416	protein coding gene	Chr4:4884693-4980376 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025795	protein coding gene	Chr4:4269328-4467440 (-)
CAST/EiJ	ENSTCUG00005025948	protein coding gene	Chr4:5027805-5122908 (-)
CBA/J	ENSMUSG00210002079	protein coding gene	Chr4:5022280-5117854 (-)
DBA/2J	ENSMUSG00185002240	protein coding gene	Chr4:5142911-5238487 (-)
FVB/NJ	ENSMUSG00205003284	protein coding gene	Chr4:4801700-4895761 (-)
JF1/MsJ	ENSUMUG00000001305	protein coding gene	Chr4:5271086-5359607 (-)
LP/J	ENSMUSG00230007175	protein coding gene	Chr4:8310331-8405905 (-)
NOD/ShiLtJ	ENSMUSG00190012639	protein coding gene	Chr4:4861481-4951332 (-)
NZO/HlLtJ	ENSMUSG00225007964	protein coding gene	Chr4:12295253-12390931 (-)
PWK/PhJ	ENSLUMG00010005277	protein coding gene	Chr4:4735584-4831436 (-)
SPRET/EiJ	ENSMSPG00010002906	protein coding gene	Chr4:5100188-5164596 (-)
WSB/EiJ	ENSIUOG00005013975	protein coding gene	Chr4:4783782-4873575 (-)

Human Ortholog

CA8, carbonic anhydrase 8 (inactive)

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CA8, carbonic anhydrase 8 (inactive)
Synonyms

CALS, CAMRQ3, CA-RP, CARP, CA-VIII, SCAR34
Links

HGNC:1382

NCBI Gene ID: 767

UniProt: P35219
Chr Location

8q12.1; chr8:60185412-60281573 (-) GRCh38

MGI Vertebrate Homology

Ca8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CA8
Gene Tree

Ca8

Diseases

1 with Ca8 mouse models; 1 with human CA8 associations

Human Disease

Mouse Models

autosomal recessive spinocerebellar ataxia 34

IDs

View 1 model

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

10 phenotypes from 1 allele in 1 genetic background
20 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
Endonuclease-mediated

5
Gene trapped

1
Spontaneous

1
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a spontaneous deletion exhibit a wobbly side-to-side gait which is first noted at two weeks of age and persists throughout life.

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All GO Annotations

5
GO References

2

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

959
Tissues

223
cDNA Data

12
Literature Summary

19

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN ca8

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All Sequences

42
RefSeq

7
UniProt

1
CCDS

CCDS17954.1

Ensembl

ENSMUSG00000041261 (Evidence)
NCBI Gene

12319

			Length	Strain/Species	Flank
genomic	ENSMUSG00000041261	Ensembl Gene Model \| MGI Sequence Detail	95680	C57BL/6J	± kb
transcript	ENSMUST00000066674	Ensembl \| MGI Sequence Detail	3853	Not Applicable
polypeptide	ENSMUSP00000063511	Ensembl \| MGI Sequence Detail	291	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000004925 carbonic anhydrase-related protein

(term hierarchy)
InterPro Domains

IPR001148 Alpha carbonic anhydrase domain

IPR036398 Alpha carbonic anhydrase domain superfamily

IPR023561 Carbonic anhydrase, alpha-class

IPR018338 Carbonic anhydrase, alpha-class, conserved site

IPR041877 Carbonic anhydrase-related protein VIII

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All nucleic 18

cDNA 12

Primer pair 5

Other 1

Antibodies 1

Microarray probesets 6

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MGD-MRK-1740, MGD-MRK-19364, MGI:2140591, MGI:2449027, MGI:8353819

Summaries

All 70

Developmental Gene Expression 19

Diseases 1

Gene Ontology 2

Phenotypes 20
Earliest

J:15409 Kato K, Sequence of a novel carbonic anhydrase-related polypeptide and its exclusive presence in Purkinje cells. FEBS Lett. 1990 Oct 1;271(1-2):137-40
Latest

J:366255 van der Heijden ME, et al., Cerebellar nuclei cells produce distinct pathogenic spike signatures in mouse models of ataxia, dystonia, and tremor. Elife. 2024 Jul 29;12

TSS for Ca8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr40885	Chr4:8239034-8239047 (-)	0 bp
Tssr40884	Chr4:8238091-8238102 (-)	944 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 09/08/2026 MGI 6.24