GENE VIEW

MOUSE GENE INFORMATION [PubMed]
Description Alstrom syndrome 1
Synonyms
Chromosome 6
Genetic Map Distance 37.48 cM
RefSeq Accessions NM_145223; NP_660258
NCBI Entrez Gene 236266 at chr6:85537525-85652745 (mm9) / chr6:85587497-85727716 (mm10)
Ensembl Gene ENSMUSG00000063810
VEGA Gene OTTMUSG00000024144
MGI Gene MGI:1934606
Mouse Protein (1)
UniProt ID Description Length (AA) Predicted # TMs
Q8K4E0 Alstrom syndrome protein 1 homolog 3251 0
Pfam Domains
Mouse alleles (5)
Allele Name Allele Type
Alms1tm1a(EUCOMM)Hmgu EUCOMM-projects
Alms1bbb Chemically induced (ENU)
Alms1foz Spontaneous
Alms1Gt(XH152)Byg Gene trapped
Alms1L2131X Chemically induced (ENU)
Human Homolog ALMS1 (Alstrom syndrome 1)
Human synonyms ALSS
Human cytoband 2p13
Known deafness gene No
Within mapped deafness loci No
Associated Human Disease in OMIM
Chicken homolog (3)
ENSGALG00000016039
ENSGALG00000016081 (ALMS1) encoding ENSGALP00000025867
ENSGALG00000022923
Gene Ontology
Biological Process (24) cilium assembly; cilium assembly; calcium-mediated signaling; fat cell differentiation; triglyceride metabolic process; spermatid development; spermatid development; apoptotic process; negative regulation of multicellular organism growth; sensory perception of sound; establishment of planar polarity; lipid metabolic process; sensory perception of sound; sensory perception of sound; cellular glucose homeostasis; regulation of fat cell differentiation; retinal rod cell development; glucose homeostasis; glucose homeostasis; developmental growth; cholesterol homeostasis; epithelial cell proliferation; ovulation; inner ear receptor stereocilium organization
Cellular Component (6) cytoplasm; cytoskeleton; cilium; intracellular; centrosome; cell projection
Molecular Function (1) molecular_function
FACS-Sorted Hair Cells
Data | Chart
E16a
E16b
P0
P4
P7
P16
Utricle GFP+ cells
82
85
123
56
62
418
Cochlea GFP+ cells
75
158
64
56
7
NA
Utricle GFP- cells
55
150
61
31
28
125
Cochlea GFP- cells
110
137
80
61
36
NA
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
GFP-
79
GFP+
108
1.36
0.934
Utricle
106
Cochlea
78
0.74
1
Embryonic
107
Postnatal
86
0.81
0.926
Adult Cochlear Inner and Outer Hair Cells
Probeset ID IHC (mean ± sd) OHC (mean ± sd) [OHC replicate] Fold Change (OHC/IHC) False Discovery Rate (FDR)
17460307 45.46 ± 12.76 25.47 ± 3.58 [18.12] 0.56 0.501
Otic Progenitor Cells
Data
Growth Factor
Replicate 1
Replicate 2
Replicate 3
Mean
bFGF
566
583
471
517
No bFGF
764
751
645
660
EGF
963
978
895
946
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
bFGF
517
No bFGF
660
1.28
1
bFGF
517
EGF
946
1.83
1.02e-6
No bFGF
660
EGF
946
1.43
0.00229
Chicken Stereocilium Proteomics
The chicken protein was not reproducibly detected in the chicken stereocilia.
Auditory and Vestibular Ganglion Neurons
Probe set ID: 1456950_at
Age E12 E13 E16 P0 P6 P15
Spiral ganglion
Replicate 1 63.84 81.4 202.22 154.31 120.07 239.6
Replicate 1 Call A A A A A A
Replicate 2 59.8 87.39 252.73 130.01 117.98 100.85
Replicate 2 Call A A P A A A
Replicate 3 82.74 103.26 252.6 88.97 174.77 89.98
Replicate 3 Call A A A A A A
Replicate 4 213.54 157.09 127.12 68.4
Replicate 4 Call A A A A
Mean 68.79 90.68 230.27 132.6 134.99 124.71
Standard Deviation 12.25 11.3 26.27 31.52 26.81 77.77
Log2 Mean 6.09 6.5 7.84 7.02 7.06 6.79
Log2 Standard Deviation 0.25 0.18 0.17 0.38 0.27 0.78
 
Vestibular ganglion
Replicate 1 99.58 215.14 47.09 34.95 40.57 39.12
Replicate 1 Call A A A A A A
Replicate 2 72.92 154.74 60.3 18.01 27.54 34.87
Replicate 2 Call A A A A A A
Replicate 3 85.01 169.71 42.27 47.72 56.4 61.68
Replicate 3 Call A A A A A A
Mean 85.84 179.86 49.89 33.56 41.5 45.22
Standard Deviation 13.35 31.45 9.33 14.9 14.45 14.41
Log2 Mean 6.41 7.48 5.62 4.96 5.31 5.45
Log2 Standard Deviation 0.22 0.25 0.26 0.72 0.52 0.44