Rat Gene Mutations Listed by Associated Disease

Mutated Gene

Function

Associated Phenotypes

Integration

Metabolic Disorders

 

 

 

Abcg2
Solute Transporter

Cancer Drug Resistance; dietary photosensitization; protoporphyria

Intron 6 of 15

Btrc

F-box, E3 Ubiquitin Ligase; WD40 Domain

Aberrant Circadian Rhythm; HIV Infection; Cancer

Intron 1 of 14

Cacna1e
Calcium Channel

Impaired Glucose Tolerance, body weight, motor activity, and behavior

Intron 6 of 46

Exoc6b

Polarized Exocytosis

Anemia; Hemoglobin Deficiency

Intron 1 of 21

Ksr2-like

Signal Transducer

Diabetes; Obesity

Intron 3 of 16

Pclo

Signaling in Pre-Synaptic Vesicles; Exocytosis

Diabetes; Autism

Intron 3 of 25

Tbc1d1

GAP domain; 2 PTB domains

Diabetes; Leanness; Obesity

Intron 1 of 26

Tmem57

Transmembrane Lycopene Cyclase

Coronary Heart Disease; Elevated Cholesterol

Intron 6 of 10

 

 

 

 

Cancer

 

 

 

Abca13

Putative Solute Transporter

Shwachman–Diamond Syndrome; Cancer Metastasis

Intron 53 of 66

Abcg2
Solute Transporter

Cancer Drug Resistance; dietary photosensitization; protoporphyria

Intron 6 of 15

Btrc

F-box, E3 Ubiquitin Ligase; WD40 Domain

Aberrant Circadian Rhythm; HIV Infection; Cancer

Intron 1 of 14

CDK8

CDK Family Kinase

Colon Cancer Oncogene; HIV Latency

Intron 6 of 11

Dlg1

Signal Transducer

Tumor Suppressor; Anti-Viral Activity

Intron 6 of 28

Ssbp2

DNA Metabolism

Prostate Tumor Marker; Tumor Suppressor

Intron 3 of 16

Zmynd8

Zinc finger Domain

T-Cell Lymphoma-Assoc. Antigen

Intron 4 of 24

 

 

 

 

Neurological & Behavioral Disorders

 

 

 

Abca13

Putative Solute Transporter

Shwachman–Diamond Syndrome; Cancer Metastasis

Intron 53 of 66

Art3
ADP Ribosylation

Abnormal CNS Repair

Intron 1 of 9
Cacna1e
Calcium Channel

Impaired Glucose Tolerance, body weight, motor activity, and behavior

Intron 6 of 46

Grik3

Glutamate Receptor, Alcoholism; Schizophrenia

Obsessive-Compulsive

Exon 11 of 16

Lmx1a
LIM Homeobox transcription factor

Neurological and skeletal defects; Inner ear defects; Deafness; Belly spotting

Intron 2 of 7

Pclo

Signaling in Pre-Synaptic Vesicles; Exocytosis

Diabetes; Autism

Intron 3 of 25

Slc1a3

High Affinity Glutamate Transporter

Episodic Ataxia; Hemiplegia; Seizures

Intron 2 of 9

Slc35a3

Golgi Sugar Transporter

Vertebrate Fusion

Intron 1 of 7

Ube2k

Ubiquitin-Conjugating Enzyme; E2 Ligase

Huntington's Disease; Alzheimer's Disease

Intron 1 of 6

 

 

 

 

Fertility

 

 

 

Kif18a
Kinesin 8

Infertility

Intron 14 of 15
Mei4
Meiotic Recombination

Required for Meiotic DNA double strand breaks

Intron 2 of 4

 

 

 

 

Developmental Defects

 

Bmpr1a

 

BMP Receptor

 

Embryonic lethal; lack of mesoderm; limb malformation; renal failure

 

Intron 1 of 10
Ctnnd1
Catenin, delta 1

Abnormal salivary/lacrimal glands; early postnatal lethal

Intron 1 of 17 or 18
Lmx1a
LIM Homeobox transcription factor

Neurological and skeletal defects; Inner ear defects; Deafness; Belly spotting

Intron 2 of 7
Mrc2
Mannose Receptor

Altered muscle mass, fibroblast activity, collagen metabolism

Intron 18 of 29
Ptpn2
Protein tyrosine phosphatase

Reduced lifespan; abnormal hematopoiesis; enhanced inflammation

Intron 7 of 9
Tead1
Transcriptional Enhancer

Abnormal heart development; Embryonic

lethal

Intron 1 of 10 - 12

 

 

Cardiovascular & Kidney Disease

 

Bmpr1a

 

BMP Receptor

Embryonic lethal; lack of mesoderm; limb malformation; renal failure

Intron 1 of 10
Tead1
Transcriptional Enhancer

Abnormal heart development; Embryonic lethal

Intron 1 of 10 - 12

 

 

Gastrointestinal Disorders
Ctnnd1
Catenin, delta 1

Abnormal salivary/lacrimal glands; early postnatal lethal

Intron 1 of 17 or 18

 

 

Bone Defects
Lmx1a
LIM Homeobox transcription factor

Neurological and skeletal defects; Inner ear defects; Deafness; Belly spotting

Intron 2 of 7

 

 

Immune System
Ptpn2
Protein tyrosine phosphatase

Reduced lifespan; abnormal hematopoiesis; enhanced inflammation

Intron 7 of 9

 

 

Unknown Phenotype

 

 

 

Arhgap26

Rho GTPase activating protein 26

Unknown Phenotype

Intron 17 of 23

Arl8a

Small GTPase; Microtubule Dynamics

Unknown Phenotype

Intron 1 of 6

Csnk1g1
Casein Kinase 1, gamma 1

Unknown Phenotype

 

Intron 5 of 11

Fars2

Phenylalanyl-tRNA synthetase

Unknown Phenotype

Intron 2 of 9

Fbxo18

F-box, E3 Ubiquitin Ligase; DNA Helicase Domain

Unknown Phenotype

Intron 19 of 22

Fstl5

TGF-beta-Family Signal Transduction

Unknown Phenotype

Intron 3 of 15

Gsg1l

Claudin Family; Germ Cell-Specific Domain

Unknown Phenotype

Intron 3 of 6

Pan3

RNA Metabolism

Unknown Phenotype

Intron 11 of 25

Papd4
Polyadenylation; MicroRNA Stabilization
Unknown Phenotype
Intron 7 of 14
Ptprh
Protein tyrosine phosphatase
Unknown Phenotype
Intron 1 or 2 of 14
Rbpms
RNA Binding

Unknown Phenotype

Intron 6 of 7
RGD1305225
C3orf19 Homolog
Unknown Phenotype
Intron 3 of 10 or 11
RGD1306353
Zfp198-like

Unknown Phenotype

Intron 1 of 3
RGD1559958
Fam73a-like

Unknown Phenotype

Intron 13 of 21 or 1 of 12

Rprd1a

Cell Cycle

Unknown Phenotype

Intron 7 of 7

Smndc1
RNA binding, splicing

Unknown Phenotype

Intron 4 of 5

Spaca6

Golgi Transmembrane Protein

Unknown Phenotype

Intron 2 of 8

Tmx4

Cellular Redox Homeostasis

Unknown Phenotype

Intron 5 of 7

Ube2q2

Ubiquitin-Conjugating Enzyme; E2 Ligase

Unknown Phenotype

Intron 1 of 14

Zfp948-ps1
Zinc Finger Protein

Unknown Phenotype

Intron 1; pseudogene