Gla<sup>em2Mcwi</sup> (galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin) - Rat Genome Database

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Gene: Glaem2Mcwi (galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin) Rattus norvegicus
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Symbol: Glaem2Mcwi
Name: galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
RGD ID: 10054395
Description: This allele was made by CRISPR/Cas9 system. The resulting mutation is a 47-bp deletion in the Gla gene
ASSOCIATED WITH abnormal circulating cytokine level; abnormal glycosphingolipid level; abnormal lens fiber morphology; ASSOCIATED WITH Fabry disease; lysosomal storage disease; Pain
Type: allele  of Gla  
Previously known as: Gla^[em2Mcwi]; Glaem2Mcwi
Is Marker For: Strains:   DA-Glaem2Mcwi  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic MapX RGD


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal circulating cytokine level  (IMP)
abnormal glycosphingolipid level  (IMP)
abnormal lens fiber morphology  (IMP)
abnormal lysosome morphology  (IMP)
abnormal megakaryocyte progenitor cell morphology  (IMP)
abnormal motor neuron morphology  (IMP)
abnormal myeloid cell number  (IMP)
abnormal myeloid leukocyte morphology  (IMP)
abnormal platelet morphology  (IMP)
abnormal proximal convoluted tubule morphology  (IMP)
abnormal reticulocyte cell number  (IMP)
abnormal reticulocyte morphology  (IMP)
abnormal retina blood vessel morphology  (IMP)
abnormal sebaceous gland morphology  (IMP)
abnormal sensory neuron morphology  (IMP)
abnormal sleep duration  (IMP)
abnormal sphingolipid level  (IMP)
abnormal survival  (IMP)
allodynia  (IMP)
alopecia  (IMP)
cornea opacity  (IMP)
decreased body weight  (IMP)
decreased cardiac muscle contractility  (IMP)
decreased circulating cholesterol level  (IMP)
decreased circulating glucose level  (IMP)
decreased circulating serum albumin level  (IMP)
decreased circulating total protein level  (IMP)
decreased grooming behavior  (IMP)
decreased heart left ventricle wall thickness  (IMP)
decreased locomotor activity  (IMP)
decreased mean corpuscular hemoglobin  (IMP)
decreased mean corpuscular volume  (IMP)
decreased mechanical nociceptive threshold  (IMP)
hyperresponsive to tactile stimuli  (IMP)
increased blood urea nitrogen level  (IMP)
increased body weight  (IMP)
increased circulating alkaline phosphatase level  (IMP)
increased circulating aspartate transaminase level  (IMP)
increased circulating interleukin-17 level  (IMP)
increased circulating potassium level  (IMP)
increased circulating tumor necrosis factor level  (IMP)
increased erythrocyte cell number  (IMP)
increased macrophage cell number  (IMP)
increased renal glomerular filtration rate  (IMP)
increased tongue size  (IMP)
increased urine calcium level  (IMP)
increased urine flow rate  (IMP)
increased urine glucose level  (IMP)
lipidosis  (IMP)
long tongue  (IMP)
lysosomal protein accumulation  (IMP)
nervous system inclusion bodies  (IMP)
neuron hypertrophy  (IMP)
renal glomerulus atrophy  (IMP)
rough coat  (IMP)
thick mitral valve  (IMP)
thrombocytosis  (IMP)
References

References - curated
# Reference Title Reference Citation
1. HomeCageScan analysis reveals ongoing pain in Fabry rats. Burand AJ, etal., Neurobiol Pain. 2023 Jan 5;13:100113. doi: 10.1016/j.ynpai.2022.100113. eCollection 2023 Jan-Jul.
2. Platelet and myeloid cell phenotypes in a rat model of Fabry disease. Kanack AJ, etal., FASEB J. 2021 Aug;35(8):e21818. doi: 10.1096/fj.202001727RR.
3. α-Galactosidase A-deficient rats accumulate glycosphingolipids and develop cardiorenal phenotypes of Fabry disease. Miller JJ, etal., FASEB J. 2019 Jan;33(1):418-429. doi: 10.1096/fj.201800771R. Epub 2018 Jul 6.
4. Neuropathic pain in a Fabry disease rat model. Miller JJ, etal., JCI Insight. 2018 Mar 22;3(6). pii: 99171. doi: 10.1172/jci.insight.99171.
5. Rats deficient in α-galactosidase A develop ocular manifestations of Fabry disease. Miller JJ, etal., Sci Rep. 2019 Jun 28;9(1):9392. doi: 10.1038/s41598-019-45837-1.
6. Data registered by Dr. Melinda Dwinell’s group Personal communication between Dr. Melinda Dwinell’s group and the RGD curators
7. Sensory-specific peripheral nerve pathology in a rat model of Fabry disease. Waltz TB, etal., Neurobiol Pain. 2021 Sep 2;10:100074. doi: 10.1016/j.ynpai.2021.100074. eCollection 2021 Aug-Dec.

Genomics

Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
Glaem2Mcwi-var1 chrX 105301986 105302032 CCTCTCGGGAGCCATCCAGCAGTCATCTATGCAGAGGTATTCATAAC - deletion Rnor_5.0

Related Rat Strains
The following Strains have been annotated to Glaem2Mcwi


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences


Additional Information