Strain Name:

129S.129-Bbs2tm1Vcs/J

Stock Number:

010751

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Availability:

Cryopreserved - Ready for recovery

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Homozygous Bbs2 targeted mutant animals develop obesity, selective cilia dysfunction and exhibit a defect in social function. Sperm do not develop flagella. This strain may be useful as a model for Bardet-Biedl syndrome.

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Congenic; Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
 
Donating Investigator Val Sheffield,   University of Iowa, HHMI

Description
Homozygous targeted mutant animals develop obesity that increases with age (cause unknown). They have phenotypes associated with selective cilia dysfunction, including retinopathy, renal cysts, and a deficit in olfaction. Retinal degeneration is characterized by a mislocalization of rhodopsin followed by photoreceptor apoptosis. Male sperm do not develop flagella, causing infertility. Heterozygous crosses produce fewer homozygotes than predicted by Mendelian ratios. Mice also exhibit a defect in social function.

Development
Exons 5-13 of the targeted gene were replaced with a neomycin resistance cassette. The mutation was created in (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cells. This strain was backcrossed seven times to 129/SvEv by the donating laboratory.

Related Strains

Strains carrying   Bbs2tm1Vcs allele
010727   B6.129-Bbs2tm1Vcs/J
View Strains carrying   Bbs2tm1Vcs     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Bardet-Biedl Syndrome; BBS
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Bbs2tm1Vcs/Bbs2tm1Vcs

        either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)
  • adipose tissue phenotype
  • abnormal abdominal fat pad morphology
    • most of the weight gain is associated with increased abdominal fat   (MGI Ref ID J:94467)
  • behavior/neurological phenotype
  • abnormal placing response
    • when lowered towards a wire grid females show less forelimb paddling   (MGI Ref ID J:94467)
  • decreased aggression
    • mutants are more docile during handling and more submissive towards other mice compared to wild-type controls   (MGI Ref ID J:94467)
  • decreased startle reflex
    • mutants have a reduced acoustic startle response   (MGI Ref ID J:94467)
  • hyporesponsive to tactile stimuli
    • mutants are less sensitive to touch and are not vocal during handling   (MGI Ref ID J:94467)
  • polyphagia   (MGI Ref ID J:94467)
  • endocrine/exocrine gland phenotype
  • decreased salivation
    • decreased salivation is seen when mutants bite on a dowel   (MGI Ref ID J:94467)
  • growth/size/body phenotype
  • decreased birth body size
    • homozygotes are smaller at birth   (MGI Ref ID J:94467)
  • decreased body size
    • homozygotes are smaller at weaning   (MGI Ref ID J:94467)
  • increased body mass index
    • by 4 months body weight and BMI are significantly greater in homozygous females compared to wild-type mice   (MGI Ref ID J:94467)
  • increased body weight
    • by 5 months body weight is significantly greater in homozygous males compared to wild-type mice   (MGI Ref ID J:94467)
  • limbs/digits/tail phenotype
  • *normal* limbs/digits/tail phenotype
    • no polydactyly or other obvious limb malformations are seen   (MGI Ref ID J:94467)
  • liver/biliary system phenotype
  • hepatic steatosis
    • lipid accumulation is seen   (MGI Ref ID J:94467)
    • however, no cysts are found   (MGI Ref ID J:94467)
  • renal/urinary system phenotype
  • kidney cysts
    • 2 out of 3 mutants had bilateral multicystic kidneys with cysts found in the urinary space surrounding the glomeruli   (MGI Ref ID J:94467)
  • reproductive system phenotype
  • absent sperm flagellum
    • sperm lack flagella   (MGI Ref ID J:94467)
  • male infertility   (MGI Ref ID J:94467)
  • taste/olfaction phenotype
  • abnormal olfaction
    • mutants are less able to find hidden food   (MGI Ref ID J:94467)
  • vision/eye phenotype
  • abnormal eye electrophysiology
    • electroretinography indicates a decrease in photoreceptor function by 10 weeks of age when the outer nuclear layer is reduced but still present and absence of photoreceptor function by 5 months of age   (MGI Ref ID J:94467)
  • disorganized photoreceptor outer segment
    • the photoreceptor outer segments are highly disorganized at 5 months of age   (MGI Ref ID J:94467)
  • retinal degeneration
    • seen at 6-8 weeks of age with complete loss of the outer nuclear layer by 10 months of age   (MGI Ref ID J:94467)
  • nervous system phenotype
  • disorganized photoreceptor outer segment
    • the photoreceptor outer segments are highly disorganized at 5 months of age   (MGI Ref ID J:94467)
  • digestive/alimentary phenotype
  • decreased salivation
    • decreased salivation is seen when mutants bite on a dowel   (MGI Ref ID J:94467)
  • integument phenotype
  • hyporesponsive to tactile stimuli
    • mutants are less sensitive to touch and are not vocal during handling   (MGI Ref ID J:94467)
  • cellular phenotype
  • absent sperm flagellum
    • sperm lack flagella   (MGI Ref ID J:94467)
  • homeostasis/metabolism phenotype
  • decreased salivation
    • decreased salivation is seen when mutants bite on a dowel   (MGI Ref ID J:94467)

Bbs2tm1Vcs/Bbs2tm1Vcs

        involves: 129S1/Sv * 129X1/SvJ
  • nervous system phenotype
  • abnormal basal ganglion morphology
    • reduction in size of the corpus striatum at 3-weeks and 3.5- to 6-months of age   (MGI Ref ID J:128532)
  • enlarged lateral ventricles
    • enlarged at 3.5- to 6-months of age   (MGI Ref ID J:128532)
  • enlarged third ventricle
    • enlarged at 3.5- to 6-months of age   (MGI Ref ID J:128532)
  • small hippocampus
    • reduced in size at 3.5- to 6-months of age   (MGI Ref ID J:128532)
  • thin cerebral cortex
    • thinning of the caudal half detected at 3.5- to 6-months of age   (MGI Ref ID J:128532)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Developmental Biology Research
Embryonic Lethality (Homozygous)
      incomplete
Eye Defects

Diabetes and Obesity Research
Obesity Without Diabetes

Internal/Organ Research
Kidney Defects

Neurobiology Research
Behavioral and Learning Defects

Reproductive Biology Research
Fertility Defects
      males only

Sensorineural Research
Retinal Degeneration

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Bbs2tm1Vcs
Allele Name targeted mutation 1, Val C Sheffield
Allele Type Targeted (Null/Knockout)
Common Name(s) Bbs2-;
Mutation Made By Val Sheffield,   University of Iowa, HHMI
Strain of Origin(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Gene Symbol and Name Bbs2, Bardet-Biedl syndrome 2 (human)
Chromosome 8
Gene Common Name(s) 2410125H22Rik; AI447581; BBS; RIKEN cDNA 2410125H22 gene; expressed sequence AI447581;
Molecular Note Exons 5-13 were replaced with a neo. Northern blot showed a lack of transcript in mutant kidney samples. [MGI Ref ID J:94467]

Genotyping

Genotyping Information

Genotyping Protocols

Bbs2tm1Vcs, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Nishimura DY; Fath M; Mullins RF; Searby C; Andrews M; Davis R; Andorf JL; Mykytyn K; Swiderski RE; Yang B; Carmi R; Stone EM; Sheffield VC. 2004. Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci U S A 101(47):16588-93. [PubMed: 15539463]  [MGI Ref ID J:94467]

Additional References

Bbs2tm1Vcs related

Berbari NF; Lewis JS; Bishop GA; Askwith CC; Mykytyn K. 2008. Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia. Proc Natl Acad Sci U S A 105(11):4242-6. [PubMed: 18334641]  [MGI Ref ID J:133334]

Beyer AM; Guo DF; Sheffield VC; Rahmouni K. 2010. Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes. Am J Physiol Heart Circ Physiol 299(6):H1902-7. [PubMed: 20852044]  [MGI Ref ID J:167249]

Davis RE; Swiderski RE; Rahmouni K; Nishimura DY; Mullins RF; Agassandian K; Philp AR; Searby CC; Andrews MP; Thompson S; Berry CJ; Thedens DR; Yang B; Weiss RM; Cassell MD; Stone EM; Sheffield VC. 2007. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A 104(49):19422-7. [PubMed: 18032602]  [MGI Ref ID J:128532]

Guo DF; Beyer AM; Yang B; Nishimura DY; Sheffield VC; Rahmouni K. 2011. Inactivation of Bardet-Biedl syndrome genes causes kidney defects. Am J Physiol Renal Physiol 300(2):F574-80. [PubMed: 21106857]  [MGI Ref ID J:168735]

Kaushik AP; Martin JA; Zhang Q; Sheffield VC; Morcuende JA. 2009. Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice. J Orthop Res 27(8):1093-9. [PubMed: 19195025]  [MGI Ref ID J:194514]

Rahmouni K; Fath MA; Seo S; Thedens DR; Berry CJ; Weiss R; Nishimura DY; Sheffield VC. 2008. Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. J Clin Invest 118(4):1458-67. [PubMed: 18317593]  [MGI Ref ID J:135832]

Seo S; Guo DF; Bugge K; Morgan DA; Rahmouni K; Sheffield VC. 2009. Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum Mol Genet 18(7):1323-31. [PubMed: 19150989]  [MGI Ref ID J:146158]

Shah AS; Farmen SL; Moninger TO; Businga TR; Andrews MP; Bugge K; Searby CC; Nishimura D; Brogden KA; Kline JN; Sheffield VC; Welsh MJ. 2008. Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc Natl Acad Sci U S A 105(9):3380-5. [PubMed: 18299575]  [MGI Ref ID J:132765]

Zhang Q; Seo S; Bugge K; Stone EM; Sheffield VC. 2012. BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet 21(9):1945-53. [PubMed: 22228099]  [MGI Ref ID J:181886]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & HusbandryWhen maintained as a live colony, heterozygotes may be bred. Homozygous males are infertile due to lack of sperm flagella. Heterozygous crosses produce fewer homozygotes than predicted by Mendelian ratios.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2525.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3283.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

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