Pde6a MGI Mouse Gene Detail - MGI:97524 - phosphodiesterase 6A, cGMP-specific, rod, alpha

Symbol

Pde6a
Name

phosphodiesterase 6A, cGMP-specific, rod, alpha
Synonyms

Pdea

Feature Type

protein coding gene
IDs

MGI:97524
NCBI Gene: 225600
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr18:61353387-61422995 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 34.41 cM
Mapping Data

9 experiments

SNPs within 2kb

2160 from dbSNP Build 142
Strain Annotations

18
RFLP

4

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97524	protein coding gene	Chr18:61353387-61426698 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024478	protein coding gene	Chr18:61091342-61173772 (+)
A/J	MGP_AJ_G0024445	protein coding gene	Chr18:58470953-58540149 (+)
AKR/J	MGP_AKRJ_G0024415	protein coding gene	Chr18:60078313-60154719 (+)
BALB/cJ	MGP_BALBcJ_G0024444	protein coding gene	Chr18:58600031-58668488 (+)
C3H/HeJ	MGP_C3HHeJ_G0024212	protein coding gene	Chr18:60306119-60380770 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024891	protein coding gene	Chr18:62736362-62823411 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022322	protein coding gene	Chr18:58016575-58084698 (+)
CAST/EiJ	MGP_CASTEiJ_G0023685	protein coding gene	Chr18:60177689-60261481 (+)
CBA/J	MGP_CBAJ_G0024182	protein coding gene	Chr18:64758059-64837424 (+)
DBA/2J	MGP_DBA2J_G0024312	protein coding gene	Chr18:58137460-58207016 (+)
FVB/NJ	MGP_FVBNJ_G0024278	protein coding gene	Chr18:57546981-57619406 (+)
LP/J	MGP_LPJ_G0024395	protein coding gene	Chr18:60935419-61012332 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024307	protein coding gene	Chr18:66375429-66454580 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024938	protein coding gene	Chr18:60271808-60342500 (+)
PWK/PhJ	MGP_PWKPhJ_G0023428	protein coding gene	Chr18:58358435-58445867 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023234	protein coding gene	Chr18:60496504-60590037 (+)
WSB/EiJ	MGP_WSBEiJ_G0023749	protein coding gene	Chr18:60129840-60208848 (+)

Human Ortholog

PDE6A, phosphodiesterase 6A

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PDE6A, phosphodiesterase 6A
Synonyms

CGPR-A, PDEA, RP43
Links

HGNC:8785

NCBI Gene ID: 5145

neXtProt AC: NX_P16499

UniProt: P16499
Chr Location

5q32; chr5:149857953-149944793 (-) GRCh38

MGI Vertebrate Homology

Pde6a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PDE6A
Gene Tree

Pde6a

Diseases

1 with Pde6a mouse models; 1 with human PDE6A associations

Human Disease

Mouse Models

retinitis pigmentosa

IDs

View 2 models

retinitis pigmentosa 43

IDs

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

Mutations/Alleles

2 with disease annotations

References

1 with disease annotations

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Phenotype Summary

15 phenotypes from 5 alleles in 6 genetic backgrounds
1 phenotype from multigenic genotypes
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
Chemically induced (ENU)

3
Endonuclease-mediated

4
Gene trapped

1
Targeted

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

52 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutant mice have retinal degeneration.

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All GO Annotations

13
GO References

7

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

739
Tissues

10
cDNA Data

59
Literature Summary

10

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pde6a

ZFIN pde6a

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All Sequences

39
RefSeq

4
UniProt

5
CCDS

CCDS29283.1

Ensembl

ENSMUSG00000024575 (Evidence)
NCBI Gene

225600

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024575	Ensembl Gene Model \| MGI Sequence Detail	69609	C57BL/6J	± kb
transcript	ENSMUST00000025468	Ensembl \| MGI Sequence Detail	4588	Not Applicable
polypeptide	ENSMUSP00000025468	Ensembl \| MGI Sequence Detail	860	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000012478 rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha

(term hierarchy)
EC

3.1.4.-, 3.1.4.35
InterPro Domains

IPR023088 3'5'-cyclic nucleotide phosphodiesterase

IPR002073 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain

IPR036971 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain superfamily

IPR023174 3'5'-cyclic nucleotide phosphodiesterase, conserved site

IPR003018 GAF domain

IPR029016 GAF-like domain superfamily

IPR003607 HD/PDEase domain

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All nucleic 68

cDNA 63

Primer pair 2

Other 3

Microarray probesets 3

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MGD-MRK-13208, MGI:3611305

Summaries

All 67

Developmental Gene Expression 10

Diseases 1

Gene Ontology 7

Phenotypes 20
Earliest

J:24992 Ovchinnikov YuA, et al., Cyclic GMP phosphodiesterase from cattle retina. Amino acid sequence of the gamma-subunit and nucleotide sequence of the corresponding cDNA. FEBS Lett. 1986 Aug 18;204(2):288-92
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Pde6a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr151460	Chr18:61353539-61353558 (+)	162 bp
Tssr151461	Chr18:61389865-61389871 (+)	36,481 bp
Tssr151462	Chr18:61408073-61408112 (+)	54,706 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 12/10/2024 MGI 6.24