Phenotypic Mutation 'nomoco' (pdf version)
Allele | nomoco |
Mutation Type |
missense
|
Chromosome | 7 |
Coordinate | 141,307,456 bp (GRCm39) |
Base Change | T ⇒ C (forward strand) |
Gene |
Muc2
|
Gene Name | mucin 2 |
Synonym(s) | 2010015E03Rik |
Chromosomal Location |
141,276,583-141,308,428 bp (+) (GRCm39)
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016] PHENOTYPE: Homozygotes for a point mutation have soft feces at weaning and develop diarrhea associated with malapsorption syndrome. Homozygous null mutants pass blood in their feces at 6 months, and 65% of null mutants have intestinal tumors at 1 year. [provided by MGI curators]
|
Accession Number | NCBI RefSeq: NM_023566, MGI: 1339364
|
Mapped | Yes |
Amino Acid Change |
Cysteine changed to Arginine
|
Institutional Source | Beutler Lab |
Gene Model |
predicted gene model for protein(s):
[ENSMUSP00000026590]
|
AlphaFold |
no structure available at present |
SMART Domains |
Protein: ENSMUSP00000026590 Gene: ENSMUSG00000025515 AA Change: C365R
Domain | Start | End | E-Value | Type |
C8
|
1 |
63 |
1.65e-11 |
SMART |
VWC
|
120 |
188 |
5.48e-2 |
SMART |
VWC
|
229 |
293 |
2.38e-11 |
SMART |
Blast:VWD
|
299 |
363 |
4e-17 |
BLAST |
CT
|
380 |
463 |
3.6e-35 |
SMART |
|
Predicted Effect |
probably damaging
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
(Using ENSMUST00000026590)
|
Predicted Effect |
probably damaging
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
(Using ENSMUST00000187945)
|
Meta Mutation Damage Score |
0.6467 |
Is this an essential gene? |
Probably nonessential (E-score: 0.099) |
Phenotypic Category |
Autosomal Recessive |
Candidate Explorer Status |
loading ... |
Single pedigree Linkage Analysis Data
|
|
Penetrance | |
Alleles Listed at MGI | All alleles(9) : Chemically induced (ENU)(5) Radiation induced(1) Targeted(3)
|
Lab Alleles |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
Eeyore
|
APN |
7 |
141693356 |
missense |
probably benign |
0.35 |
kenny
|
APN |
7 |
|
nonsense |
|
|
Winnie
|
APN |
7 |
141286029 |
missense |
probably damaging |
1.00 |
IGL01303:Muc2
|
APN |
7 |
141306132 |
missense |
probably benign |
|
IGL01482:Muc2
|
APN |
7 |
141307797 |
missense |
probably damaging |
0.96 |
IGL01875:Muc2
|
APN |
7 |
141306477 |
missense |
probably damaging |
0.99 |
IGL02088:Muc2
|
APN |
7 |
141305241 |
missense |
probably damaging |
1.00 |
IGL02415:Muc2
|
APN |
7 |
141305609 |
nonsense |
probably null |
|
IGL02548:Muc2
|
APN |
7 |
141305594 |
missense |
probably damaging |
1.00 |
IGL02836:Muc2
|
APN |
7 |
141300450 |
unclassified |
probably benign |
|
IGL03196:Muc2
|
APN |
7 |
141301367 |
missense |
probably damaging |
0.97 |
Muskatenwein
|
UTSW |
7 |
141307176 |
missense |
unknown |
|
Schlendrian
|
UTSW |
7 |
141281925 |
missense |
probably damaging |
1.00 |
Seco
|
UTSW |
7 |
141284976 |
missense |
probably damaging |
1.00 |
BB001:Muc2
|
UTSW |
7 |
141281631 |
missense |
probably damaging |
1.00 |
BB011:Muc2
|
UTSW |
7 |
141281631 |
missense |
probably damaging |
1.00 |
E0370:Muc2
|
UTSW |
7 |
141282598 |
missense |
probably damaging |
1.00 |
R0127:Muc2
|
UTSW |
7 |
141302691 |
missense |
probably benign |
0.00 |
R0179:Muc2
|
UTSW |
7 |
141302708 |
missense |
probably damaging |
1.00 |
R0201:Muc2
|
UTSW |
7 |
141699185 |
frame shift |
probably null |
|
R0299:Muc2
|
UTSW |
7 |
141306466 |
missense |
probably damaging |
1.00 |
R0547:Muc2
|
UTSW |
7 |
141699185 |
frame shift |
probably null |
|
R0699:Muc2
|
UTSW |
7 |
141306037 |
missense |
probably damaging |
1.00 |
R0900:Muc2
|
UTSW |
7 |
141699185 |
frame shift |
probably null |
|
R1348:Muc2
|
UTSW |
7 |
141699185 |
frame shift |
probably null |
|
R1466:Muc2
|
UTSW |
7 |
141302711 |
missense |
probably damaging |
1.00 |
R1466:Muc2
|
UTSW |
7 |
141302711 |
missense |
probably damaging |
1.00 |
R1625:Muc2
|
UTSW |
7 |
141283405 |
missense |
probably damaging |
1.00 |
R2010:Muc2
|
UTSW |
7 |
141287444 |
missense |
probably damaging |
0.99 |
R2149:Muc2
|
UTSW |
7 |
141699185 |
frame shift |
probably null |
|
R2163:Muc2
|
UTSW |
7 |
141699185 |
frame shift |
probably null |
|
R3008:Muc2
|
UTSW |
7 |
141281347 |
missense |
possibly damaging |
0.93 |
R3110:Muc2
|
UTSW |
7 |
141299225 |
unclassified |
probably benign |
|
R3112:Muc2
|
UTSW |
7 |
141299225 |
unclassified |
probably benign |
|
R3424:Muc2
|
UTSW |
7 |
141279595 |
missense |
probably damaging |
0.99 |
R3786:Muc2
|
UTSW |
7 |
141283590 |
missense |
probably benign |
0.01 |
R3854:Muc2
|
UTSW |
7 |
141308081 |
missense |
probably damaging |
1.00 |
R3964:Muc2
|
UTSW |
7 |
141286233 |
missense |
probably benign |
0.17 |
R3965:Muc2
|
UTSW |
7 |
141286233 |
missense |
probably benign |
0.17 |
R3966:Muc2
|
UTSW |
7 |
141286233 |
missense |
probably benign |
0.17 |
R3973:Muc2
|
UTSW |
7 |
141300541 |
unclassified |
probably benign |
|
R3974:Muc2
|
UTSW |
7 |
141300541 |
unclassified |
probably benign |
|
R3976:Muc2
|
UTSW |
7 |
141300541 |
unclassified |
probably benign |
|
R4327:Muc2
|
UTSW |
7 |
141281577 |
missense |
probably damaging |
0.96 |
R4694:Muc2
|
UTSW |
7 |
141306082 |
missense |
probably damaging |
1.00 |
R4764:Muc2
|
UTSW |
7 |
141299345 |
missense |
possibly damaging |
0.88 |
R4769:Muc2
|
UTSW |
7 |
141286260 |
critical splice donor site |
probably null |
|
R4798:Muc2
|
UTSW |
7 |
141307877 |
missense |
probably benign |
0.01 |
R4900:Muc2
|
UTSW |
7 |
141303280 |
missense |
probably benign |
0.32 |
R5383:Muc2
|
UTSW |
7 |
141307456 |
missense |
probably damaging |
1.00 |
R5489:Muc2
|
UTSW |
7 |
141305169 |
missense |
probably benign |
0.00 |
R5615:Muc2
|
UTSW |
7 |
141277446 |
missense |
probably damaging |
1.00 |
R5856:Muc2
|
UTSW |
7 |
141299381 |
unclassified |
probably benign |
|
R5919:Muc2
|
UTSW |
7 |
141281171 |
missense |
probably damaging |
0.97 |
R5953:Muc2
|
UTSW |
7 |
141287951 |
missense |
probably damaging |
0.96 |
R5979:Muc2
|
UTSW |
7 |
141305143 |
missense |
probably damaging |
0.99 |
R5979:Muc2
|
UTSW |
7 |
141283493 |
splice site |
probably null |
|
R6175:Muc2
|
UTSW |
7 |
141282875 |
missense |
probably damaging |
1.00 |
R6213:Muc2
|
UTSW |
7 |
141305151 |
missense |
probably damaging |
1.00 |
R6281:Muc2
|
UTSW |
7 |
141306140 |
missense |
probably damaging |
1.00 |
R6321:Muc2
|
UTSW |
7 |
141287397 |
missense |
probably benign |
0.28 |
R6390:Muc2
|
UTSW |
7 |
141305883 |
missense |
probably damaging |
0.97 |
R6485:Muc2
|
UTSW |
7 |
141300473 |
unclassified |
probably benign |
|
R6582:Muc2
|
UTSW |
7 |
141282941 |
missense |
probably benign |
0.00 |
R6683:Muc2
|
UTSW |
7 |
141305214 |
missense |
probably benign |
0.38 |
R6896:Muc2
|
UTSW |
7 |
141306432 |
missense |
possibly damaging |
0.48 |
R6906:Muc2
|
UTSW |
7 |
141284976 |
missense |
probably damaging |
1.00 |
R6924:Muc2
|
UTSW |
7 |
141284077 |
missense |
possibly damaging |
0.87 |
R7040:Muc2
|
UTSW |
7 |
141305194 |
missense |
unknown |
|
R7222:Muc2
|
UTSW |
7 |
141290758 |
missense |
|
|
R7251:Muc2
|
UTSW |
7 |
141278965 |
missense |
possibly damaging |
0.91 |
R7282:Muc2
|
UTSW |
7 |
141306481 |
missense |
|
|
R7315:Muc2
|
UTSW |
7 |
141276645 |
missense |
probably damaging |
0.99 |
R7421:Muc2
|
UTSW |
7 |
141301863 |
missense |
|
|
R7556:Muc2
|
UTSW |
7 |
141307439 |
missense |
|
|
R7651:Muc2
|
UTSW |
7 |
141290750 |
missense |
|
|
R7710:Muc2
|
UTSW |
7 |
141287452 |
missense |
possibly damaging |
0.92 |
R7776:Muc2
|
UTSW |
7 |
141290942 |
missense |
|
|
R7813:Muc2
|
UTSW |
7 |
141282543 |
splice site |
probably null |
|
R7843:Muc2
|
UTSW |
7 |
141281662 |
missense |
probably benign |
0.03 |
R7869:Muc2
|
UTSW |
7 |
141303471 |
missense |
|
|
R7924:Muc2
|
UTSW |
7 |
141281631 |
missense |
probably damaging |
1.00 |
R7993:Muc2
|
UTSW |
7 |
141308173 |
missense |
|
|
R8053:Muc2
|
UTSW |
7 |
141284575 |
missense |
probably benign |
0.01 |
R8068:Muc2
|
UTSW |
7 |
141298422 |
missense |
|
|
R8099:Muc2
|
UTSW |
7 |
141299175 |
splice site |
probably null |
|
R8192:Muc2
|
UTSW |
7 |
141305215 |
missense |
|
|
R8194:Muc2
|
UTSW |
7 |
141290801 |
missense |
|
|
R8545:Muc2
|
UTSW |
7 |
141306130 |
missense |
unknown |
|
R8701:Muc2
|
UTSW |
7 |
141281850 |
missense |
probably damaging |
1.00 |
R8883:Muc2
|
UTSW |
7 |
141287469 |
missense |
probably damaging |
0.98 |
R8894:Muc2
|
UTSW |
7 |
141280758 |
missense |
probably damaging |
1.00 |
R8905:Muc2
|
UTSW |
7 |
141279643 |
missense |
probably benign |
0.00 |
R9024:Muc2
|
UTSW |
7 |
141287936 |
missense |
probably damaging |
0.98 |
R9032:Muc2
|
UTSW |
7 |
141287058 |
missense |
probably damaging |
1.00 |
R9085:Muc2
|
UTSW |
7 |
141287058 |
missense |
probably damaging |
1.00 |
R9091:Muc2
|
UTSW |
7 |
141290816 |
missense |
|
|
R9104:Muc2
|
UTSW |
7 |
141286224 |
missense |
probably damaging |
1.00 |
R9114:Muc2
|
UTSW |
7 |
141287983 |
nonsense |
probably null |
|
R9270:Muc2
|
UTSW |
7 |
141290816 |
missense |
|
|
R9297:Muc2
|
UTSW |
7 |
141302759 |
missense |
|
|
R9325:Muc2
|
UTSW |
7 |
141298559 |
missense |
|
|
R9354:Muc2
|
UTSW |
7 |
141307157 |
missense |
|
|
R9386:Muc2
|
UTSW |
7 |
141279389 |
missense |
probably damaging |
1.00 |
R9529:Muc2
|
UTSW |
7 |
141287453 |
missense |
possibly damaging |
0.55 |
R9550:Muc2
|
UTSW |
7 |
141308242 |
missense |
probably damaging |
1.00 |
R9583:Muc2
|
UTSW |
7 |
141300559 |
missense |
|
|
R9607:Muc2
|
UTSW |
7 |
141305190 |
missense |
|
|
R9646:Muc2
|
UTSW |
7 |
141276643 |
missense |
probably benign |
|
R9651:Muc2
|
UTSW |
7 |
141288014 |
missense |
probably damaging |
0.99 |
R9774:Muc2
|
UTSW |
7 |
141285811 |
missense |
probably benign |
|
R9784:Muc2
|
UTSW |
7 |
141280785 |
nonsense |
probably null |
|
Z1176:Muc2
|
UTSW |
7 |
141300451 |
missense |
|
|
Z1177:Muc2
|
UTSW |
7 |
141298531 |
missense |
|
|
|
Mode of Inheritance |
Autosomal Recessive |
Local Stock | |
Repository | |
Last Updated |
2019-09-04 9:38 PM
by Anne Murray
|
Record Created |
2017-09-11 8:28 PM
|
Record Posted |
2017-10-12 |
Phenotypic Description |
The nomoco phenotype was identified among N-ethyl-N-nitrosourea (ENU)-mutagenized G3 mice of the pedigree R5383, some of which showed susceptibility to dextran sodium sulfate (DSS)-induced colitis seven days after DSS treatment (Figure 1).
|
Nature of Mutation |
Whole exome HiSeq sequencing of the G1 grandsire identified 63 mutations. The colitis susceptibility phenotype was linked by continuous variable mapping to a mutation in Muc2: a T to C transition at base pair 141,753,719 (v38) on chromosome 7, or base pair 63,380 in the GenBank genomic region NC_000073 encoding Muc2. Linkage was found with a recessive model of inheritance, wherein four variant homozygotes departed phenotypically from 19 homozygous reference mice and 20 heterozygous mice with a P value of 1.9 x 10-8 (Figure 3). The mutation corresponds to residue 6,852 in the mRNA sequence NM_023566 within exon 14 of 16 total exons.
6837 ATGCCTAATGGCTGCTGTAAGACATGCATCCCT
360 -M--P--N--G--C--C--K--T--C--I--P-
|
The mutated nucleotide is indicated in red. The mutation results in a cysteine to arginine substitution at position 365 (C365R) in the MUC2 protein, and is strongly predicted by PolyPhen-2 to be damaging (score = 1.000).
|
Illustration of Mutations in
Gene & Protein |
|
---|
Protein Prediction |
The Muc2 gene encodes a secreted member of the mucin family of proteins. The structural feature that is common to all mucins is the tandem-repeat domain, which contains tandem repeats of identical or highly similar sequences that are rich in serine, threonine and proline residues. MUC2 contains two tandem repeat domains that are located in the middle of the protein, and shows extensive polymorphism due to the variable number of tandem repeats that can be present (1-5). For human MUC2, the first tandem repeat domain is invariant and consists of 21 repeats of a 23 amino acid sequence, while the second domain contains between 51-115 repeats of a 16 amino acid sequence (1;6). Thus, the size of the MUC2 protein varies widely between individuals and ethnicities with the most common allelic form containing over 5100 amino acids (2). In mouse, the central repetitive region of MUC2 contains two distinct repetitive regions consisting of 8 and 10 amino acid tandem repeats, respectively (7). MUC2 has several highly conserved cysteine-rich domains; many have high homology with von Willebrand platelet aggregating factor (VWF) (8). These include the five D domains known as D1, D2, D’, D3 and D4, as well as the B, C and cysteine-knot (CK) domains. The D1-D3 domains are located in the N-terminus of the protein, and the D4, B, C and CK domains are located in the C-terminus. The nomoco mutation results in a cysteine to arginine substitution at position 365 (C365R) in the MUC2 protein; amino acid 365 is within an undefined region immediately following the VWF domain. For more information about Muc2, please see the record for Schlendrian.
|
Putative Mechanism | MUC2 is the major molecular component of the inner and outer mucosal layers of the intestinal tract (9). Because the intestinal mucosal layer plays a critical role in immune defense and protection against commensal bacteria, the disruption of the intestinal mucus layer and epithelium can result in intestinal bowel disease (IBD; OMIM: #266600). MUC2 polymorphisms are associated with the development of CD (10). Moreover, IBD patients often show alterations in mucin composition, including decreases in MUC2 expression, abnormal expression of other mucins, as well as differences in the glycosylation and sulfation of MUC2 (10-13). The excessive inflammation that occurs in IBD may lead to upregulation of MUC2 as MUC2 is regulated in vitro by a variety of inflammatory mediators including NF-κB, an important effector of the immune system (10;14). Targeted inactivation of the murine Muc2 gene resulted in the spontaneous development of intestinal tumors (15), and on certain genetic backgrounds, the development of chronic inflammation and colitis (16). Muc2-/- mice lacked morphologically distinguishable goblet cells, although the goblet cell lineage remained intact. Muc2 knockout mice also exhibited increased proliferation, decreased apoptosis and increased migration of epithelial cells along the intestinal crypts. Two missense mutations in murine Muc2 also resulted in the development of ulcerative colitis in mice, although the mechanism behind the development of disease in these animals appears to be somewhat different than complete lack of the protective mucus layer (17). In mice with missense mutations in Muc2, the development of colitis resulted from the aberrant oligomerization and subsequent accumulation of MUC2 in the ER, which lead to ER stress, triggering of the unfolded protein response (UPR), subsequent inflammation and goblet cell apoptosis (17). We have not demonstrated that the nomoco mutation results in MUC2 accumulation in the ER. It is also possible that secretion of MUC2 in nomoco animals will result in alterations of the intestinal mucus layer. Changes in mucus formation may result in inability to bind to molecules such as trefoil factors or sequester important bioactive molecules.
|
Primers |
PCR Primer
nomoco_pcr_F: CTGTCCATGTATGCGTTGCC
nomoco_pcr_R: CTTTGAGGAACTGAGTCCCAAC
Sequencing Primer
nomoco_seq_F: CCATGTATGCGTTGCCAGGAG
nomoco_seq_R: TGAGTCCCAACATGCAGCTG
|
Genotyping | PCR program 1) 94°C 2:00 2) 94°C 0:30 3) 55°C 0:30 4) 72°C 1:00 5) repeat steps (2-4) 40x 6) 72°C 10:00 7) 4°C hold
The following sequence of 400 nucleotides is amplified (chromosome 7, + strand):
1 ctgtccatgt atgcgttgcc aggagcaggg aaccttaatg caccagctac ctggtttcca 61 gggggcttgt tccacaccct cctgtaggac agcccttatg catcccatga caagaagggg 121 cactcacttg ctgggggtgc tctggactcc tttcttactc tcctttctct tcagggctcc 181 atcacataca tgcctaatgg ctgctgtaag acatgtgagt acggctgggg aaatgttggg 241 tgatgggtga gttttactca gagccttgag gggaagatgc aggacaggat gcttcaggac 301 tgtgtctcct acactcatgc agatgtatag gaatctgagt ctccttccag ggagaggctg 361 ggtggagccc agctgcatgt tgggactcag ttcctcaaag
Primer binding sites are underlined and the sequencing primers are highlighted; the mutated nucleotide is shown in red. |
References | 1. Gum, J. R., Byrd, J. C., Hicks, J. W., Toribara, N. W., Lamport, D. T., and Kim, Y. S. (1989) Molecular Cloning of Human Intestinal Mucin cDNAs. Sequence Analysis and Evidence for Genetic Polymorphism. J. Biol. Chem. 264, 6480-6487.
3. van Klinken, B. J., Einerhand, A. W., Duits, L. A., Makkink, M. K., Tytgat, K. M., Renes, I. B., Verburg, M., Buller, H. A., and Dekker, J. (1999) Gastrointestinal Expression and Partial cDNA Cloning of Murine Muc2. Am. J. Physiol. 276, G115-24.
4. Vinall, L. E., Hill, A. S., Pigny, P., Pratt, W. S., Toribara, N., Gum, J. R., Kim, Y. S., Porchet, N., Aubert, J. P., and Swallow, D. M. (1998) Variable Number Tandem Repeat Polymorphism of the Mucin Genes Located in the Complex on 11p15.5. Hum. Genet. 102, 357-366.
5. Rousseau, K., Byrne, C., Kim, Y. S., Gum, J. R., Swallow, D. M., and Toribara, N. W. (2004) The Complete Genomic Organization of the Human MUC6 and MUC2 Mucin Genes. Genomics. 83, 936-939.
6. Toribara, N. W., Gum, J. R.,Jr, Culhane, P. J., Lagace, R. E., Hicks, J. W., Petersen, G. M., and Kim, Y. S. (1991) MUC-2 Human Small Intestinal Mucin Gene Structure. Repeated Arrays and Polymorphism. J. Clin. Invest. 88, 1005-1013.
7. Escande, F., Porchet, N., Bernigaud, A., Petitprez, D., Aubert, J. P., and Buisine, M. P. (2004) The Mouse Secreted Gel-Forming Mucin Gene Cluster. Biochim. Biophys. Acta. 1676, 240-250.
8. Gum, J. R.,Jr, Hicks, J. W., Toribara, N. W., Siddiki, B., and Kim, Y. S. (1994) Molecular Cloning of Human Intestinal Mucin (MUC2) cDNA. Identification of the Amino Terminus and overall Sequence Similarity to Prepro-Von Willebrand Factor. J. Biol. Chem. 269, 2440-2446.
9. Johansson, M. E., Phillipson, M., Petersson, J., Velcich, A., Holm, L., and Hansson, G. C. (2008) The Inner of the Two Muc2 Mucin-Dependent Mucus Layers in Colon is Devoid of Bacteria. Proc. Natl. Acad. Sci. U. S. A. 105, 15064-15069.
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Science Writers | Anne Murray |
Illustrators | Diantha La Vine |
Authors | William McAlpine, Braden Hayse, Kuan-Wen Wang, Emre Turer, and Bruce Beutler |