Homozygous M390R mutant Bbs1 animals exhibit photoreceptor degeneration, severe obesity, hyperphagia and are hyperleptinemic with reduced locomotor activity. Lateral ventricles in the brain are enlarged, the corpus striatum is reduced and males lack sperm flagella.
Val Sheffield, University of Iowa, HHMI
Homozygous M390R mutant animals exhibit photoreceptor degeneration and severe obesity. By week 12, homozygous mutant mice are significantly heavier than wildtype or heterozygous mice. Animals are hyperphagic and hyperleptinemic with reduced locomotor activity but no elevation of mean arterial blood pressure. Lateral ventricles in the brain are enlarged and the corpus striatum is reduced. Males lack sperm flagella and are infertile. Although a model of Bardet-Biedl syndrome (BBS, these mice do not demonstrate polycactyly or renal cysts). Expression levels are comparable to those of wildtype mice as determined by Northern blot. Homozygotes are recovered at predicted Mendelian ratios from heterozygous crosses.
A methionine to arginine (ATG to AGG) mutation was introduced at codon 390 (exon 12) and an in-frame neomycin resistance cassette was placed in intron 12 of the targeted gene. The (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cell line was used to create the mutation. This strain was backcrossed seven times to 129/SvEv by the donating laboratory.
|Allele Name||targeted mutation 1, Val C Sheffield|
|Allele Synonym(s)||Bbs1tm1Vcs; targeted mutation 1, Val C Sheffield|
|Gene Symbol and Name||Bbs1, Bardet-Biedl syndrome 1 (human)|
|Gene Synonym(s)||BBS2L2; D19Ertd609e; expressed sequence AI451249; DNA segment, Chr 19, ERATO Doi 609, expressed; D19Ertd609e; AI451249|
|Promoter||Bbs1, Bardet-Biedl syndrome 1 (human), mouse, laboratory|
|Strain of Origin||(129X1/SvJ x 129S1/Sv)F1-Kitl+|
|Molecular Note||The methionine codon (ATG) at position 390 in exon 12 was replaced with an arginine codon (AGG) and a neo cassette was inserted into intron 12 via homologous recombination. Northern blot analysis indicated that mRNA expression is not reduced in homozygous brains.|
|Mutations Made By|| |
Val Sheffield, University of Iowa, HHMI
When maintained as a live colony, heterozygotes may be bred. Homozygous males are infertile due to lack of sperm flagella.
When using the 129S.129-Bbs1tm1Vcs/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #010750 in your Materials and Methods section.
|Heterozygous or wildytpe for Bbs1<tm1Vcs>|
We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
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|Frozen Mouse Embryo||$2,595.00 per straw or vial|
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