|Institutional Source||Beutler Lab|
|Gene Name||alkaline ceramidase 1|
|Synonyms||2310024P18Rik, Cer1, Asah3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R9310 (G1)|
|Chromosomal Location||56953490-56982126 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 56955598 bp (GRCm38)|
|Amino Acid Change||Valine to Aspartic acid at position 184 (V184D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062037 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056113]|
AA Change: V184D
PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: V184D
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]
PHENOTYPE: Mice homozygous for a null allele show increased ceramide levels, hair shaft abnormalities, cyclic alopecia, epidermal hyperplasia, sebaceous gland and infundibulum expansion, increased epidermal water loss, and hypermetabolism along with decreased body weight and adipose tissue depots during aging. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acer1||
(F):5'- ACACTTCTCTACTTGGAGTGCATC -3'
(R):5'- GCCACTTAGAACACTGCCTTC -3'
(F):5'- AGTGCATCTGAACTCTGACTTG -3'
(R):5'- GTGCAGATGTGTCTATCAATCATC -3'