| Type |
Details |
Score |
| Strain |
| Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Impg2/Impg2 |
| Background: |
C57BL/6J-Impg2 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Impg2/Impg2 |
| Background: |
C57BL/6J-Impg2 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
128
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bandah-Rozenfeld D |
| Year: |
2010 |
| Journal: |
Am J Hum Genet |
| Title: |
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. |
| Volume: |
87 |
| Issue: |
2 |
| Pages: |
199-208 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Castberg T |
| Year: |
1976 |
| Journal: |
Acta Med Scand Suppl |
| Title: |
Complications from the pacemaker pocket. Prophylaxis, treatment and results. |
| Volume: |
596 |
|
| Pages: |
51-4 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Manes G |
| Year: |
2013 |
| Journal: |
Am J Hum Genet |
| Title: |
Mutations in IMPG1 cause vitelliform macular dystrophies. |
| Volume: |
93 |
| Issue: |
3 |
| Pages: |
571-8 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
This entry includes interphotoreceptor matrix proteoglycans 1 and 2.IMPG1, also known as SPACR, is a sialoprotein associated with photoreceptor cones and rods protein. It is a secreted glycoprotein containing a central mucin-like domain and an EGF-like domain in the C-terminal region. It also contains two SEA domains (after sea urchin sperm protein, enterokinase, and agrin), a highly conserved structure composed of four anti-parallel �� sheets surrounded by �� helices in an O-linked glycosylation-rich environment. IMPG1 has been linked to vitelliform macular dystrophies [].Interphotoreceptor matrix proteoglycan 2 (IMPG2, also known as SPACRCAN) is a interphotoreceptor matrix proteoglycan that binds to chondroitin sulfate and hyaluronan. It may be involved in organisation of the insoluble interphotoreceptor matrix [, ]. Mutations in the IMPG2 gene cause retinitis pigmentosa 56 (RP56) []and vitelliform macular dystrophy 5 (VMD5) []. |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Olivier G |
| Year: |
2022 |
| Journal: |
Genes (Basel) |
| Title: |
SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium. |
| Volume: |
13 |
| Issue: |
9 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Escher P |
| Year: |
2008 |
| Journal: |
Mol Vis |
| Title: |
Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice. |
| Volume: |
14 |
|
| Pages: |
2126-35 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
798
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
215
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1243
 |
| Fragment?: |
false |
|
•
•
•
•
•
|