Type |
Details |
Score |
Genotype |
Symbol: |
Alms1/Alms1 |
Background: |
C57BL/6J-Alms1 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
ALMS1, centrosome and basal body associated; translational vision research model 102 |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Allele |
Name: |
ALMS1, centrosome and basal body associated; L2131 |
Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
Allele |
Name: |
ALMS1, centrosome and basal body associated; fat aussie |
Allele Type: |
Spontaneous |
|
|
•
•
•
•
•
|
Protein Domain |
Type: |
Repeat |
Description: |
This entry contains a single repeat unit of approximately 47 amino acids. It is found in Centrosome-associated protein ALMS1 and homologues [, ]. |
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•
•
•
•
•
|
Genotype |
Symbol: |
Alms1/Alms1 |
Background: |
involves: NOD |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Alms1/Alms1 |
Background: |
involves: C57BL/6 * NOD |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Alms1/Alms1 |
Background: |
C57BL/6J-Alms1/Pjn |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
ALMS1, centrosome and basal body associated; mutation 6, Bruce Beutler |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Allele |
Name: |
ALMS1, centrosome and basal body associated; gene trap XH152, BayGenomics |
Allele Type: |
Gene trapped |
Attribute String: |
Hypomorph |
|
•
•
•
•
•
|
Strain |
Attribute String: |
chemically induced mutation, coisogenic, mutant strain |
|
•
•
•
•
•
|
Allele |
Name: |
ALMS1, centrosome and basal body associated; mutation 5, Bruce Beutler |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, chemically induced mutation, coisogenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, chemically induced mutation, coisogenic |
|
•
•
•
•
•
|
Allele |
Name: |
ALMS1, centrosome and basal body associated; mutation 1, Bruce Beutler |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Strain |
Attribute String: |
chemically induced mutation, coisogenic, mutant strain |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, chemically induced mutation |
|
•
•
•
•
•
|
Allele |
Name: |
ALMS1, centrosome and basal body associated; mutation 4, Bruce Beutler |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Strain |
Attribute String: |
chemically induced mutation, coisogenic, mutant strain |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Alms1/Alms1 |
Background: |
C57BL/6J-Alms1 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Alms1/Alms1 |
Background: |
C57BL/6J-Alms1 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Alms1/Alms1 |
Background: |
C57BL/6J-Alms1 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Alms1/Alms1 |
Background: |
C57BL/6J-Alms1 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Alms1/Alms1 |
Background: |
involves: 129P2/OlaHsd * C57BL/6J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Chang CW |
Year: |
2016 |
Journal: |
J Cell Sci |
Title: |
CEP295 interacts with microtubules and is required for centriole elongation. |
Volume: |
129 |
Issue: |
13 |
Pages: |
2501-13 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chen C |
Year: |
2020 |
Journal: |
Elife |
Title: |
Alstrom syndrome gene is a stem-cell-specific regulator of centriole duplication in the Drosophila testis. |
Volume: |
9 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Atorino ES |
Year: |
2020 |
Journal: |
Nat Commun |
Title: |
CEP44 ensures the formation of bona fide centriole wall, a requirement for the centriole-to-centrosome conversion. |
Volume: |
11 |
Issue: |
1 |
Pages: |
903 |
|
•
•
•
•
•
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Protein Domain |
Type: |
Domain |
Description: |
This domain is found at the C terminus of centrosome-associated protein ALMS1, centrosomal protein of 295 kDa (CEP295, also known as KIAA1731) and (E2-independent) E3 ubiquitin-conjugating enzyme FATS (also known as C10orf90) [, ]. These proteins play a role in centrosomal functions. ALMS1 is implicated in ciliary function, cell cycle control, and intracellular transport. It interacts with alpha-actinin and components of the endosomal recycling pathway []. CEP295 is a centriole-enriched microtubule-binding protein involved in centriole biogenesis, essential for the generation of the distal portion of newborn centrioles and recruitment of centriolar proteins, such as POC1B, POC5 and CEP135 [, ].Centrosome-associated protein Alms1a, the Drosophila homologue of centrosome-associated protein ALMS1, plays critical role in ensuring centrosome duplication in asymmetrically dividing germline stem cells (GSCs), which is essential for the production of centrosomes and centrioles in all downstream germ cells []. This domain directly interacts with Klp10, a microtubule-depolymerizing kinesin of kinesin-13 family, at GSC centrosome []. Alms1a might recruit SAK for daughter centriole duplication []. |
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•
•
•
•
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Publication |
First Author: |
Ganguly S |
Year: |
2021 |
Journal: |
Cell Mol Gastroenterol Hepatol |
Title: |
Nonalcoholic Steatohepatitis and HCC in a Hyperphagic Mouse Accelerated by Western Diet. |
Volume: |
12 |
Issue: |
3 |
Pages: |
891-920 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
644
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
691
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
607
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
97
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
285
|
Fragment?: |
false |
|
•
•
•
•
•
|