Mice homozygous for the ENU-induced Adam17 (waved) mutation are characterized by open eyelids and curly vibrissae at birth; adult animals display wavy coats, corneal opacities, are susceptible to dextran sulfate sodium (DSS)-induced colitis. This mutant mouse strain may be useful in studies of inflammatory bowel disease.
Bruce Beutler, University of Texas Southwestern MedicalRead More +
Mice homozygous for the mutation are viable and are characterized by open eyelids and curly vibrissae at birth; adult animals display wavy coats and corneal opacities. These animals are susceptible to dextran sulfate sodium (DSS)-induced colitis and exhibit severe weight loss as a result of DSS administration. The donating investigator indicates that homozygous males are fertile, however homozygous females do not breed. This mutant mouse strain may be useful in studies of inflammatory bowel disease.
Heterozygotes: Not evaluated, phenotype is presumed to be normal.
This missense point mutation was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males. Mutagenized males were outcrossed to C57BL/6J females. The mutation results in a T to A transversion at position 1186 of the Adam17 gene, in exon 9 of 19 total exons. The mutation alters the corresponding amino acid from phenylalanine to isoleucine at codon 343. Upon arrival, mice were bred to C57BL/6J for at least 1 generation to establish the colony.
|Allele Name||mutation 1, Bruce Beutler|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Adam17, a disintegrin and metallopeptidase domain 17|
|Gene Synonym(s)||ADAM18; CD156B; CD156b; CSVP; NISBD; NISBD1; TACE; Tace; Tace; tumor necrosis factor-alpha converting enzyme|
|Strain of Origin||C57BL/6J|
|Molecular Note||The wavedX mutation has been identified as a T to A transversion at nucleotide position 1186 of the gene, in the ninth of its 19 exons. It changes phenylalanine to isoleucine at amino acid position 343 of the protein (F343I).|
|Mutations Made By|| |
Bruce Beutler, University of Texas Southwestern Medical
While maintaining a live colony, these mice are bred as heterozygote female x homozygote male. Females homozygous for the mutation do not breed.
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