Strain Name:


Stock Number:



Under Development for Cryo

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Register Interest
These ADP-ribosylation factor-like 6 (Arl6) or Bbs3 knockout mice exhibit several characteristics of Bardet-Biedl syndrome (BBS) including retinal degeneration, male infertility, severe hydrochephalus, increased body fat (but not obesity), and hypertension.


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 Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
Generation?+N1F1 (17-JUN-14)
Generation Definitions
Donating Investigator Val Sheffield,   University of Iowa, HHMI

ADP-ribosylation factor-like 6 (Arl6) or Bbs3 is a small GTPase and one of 16 genes associated with Bardet-Biedl syndrome (BBS). BBS3 interacts with the 7 BBS proteins that form the BBSome complex, and is required for ciliary localization of the BBSome. Mice homozygous for this knockout mutation exhibit several characteristics of BBS including retinal degeneration, male infertility (caused by absence of sperm flagella), severe hydrochephalus, misshapen ependymal cell cilia, altered cilia beat mechanics, increased body fat (but not obesity), increased arterial pressure (hypertension) and increased heart rate. Both the C57BL/6J genetic background (see Stock No. 021215) and the C3H genetic background (see Stock No. 021217) strains show reduced viability of homozygotes, but otherwise there are no known phenotypic differences between the C57BL/6, C3H, mixed C57BL/6-129 (Stock No. 018443), and 129 (see Stock No. 021216) genetic backgrounds. This mutant mouse strain may be useful in studies of Bardet-Biedl syndrome.

The targeting vector uses a neomycin resistance gene to replace exons 6 and 7 creating a frameshift that disrupts both known mRNA isoforms. The construct was electroporated into (129X1/SvJ x 129S1/Sv)F1-Kitl<+>-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts. The resulting chimeric animals were bred to C57BL/6J. Heterozygotes were intercrossed to generate homozygotes. This line was backcrossed to 129S4/SvEvTac for 7 generations by the donating laboratory.

Control Information

   +/+ from the colony
   002448 129S1/SvImJ (approximate)
  Considerations for Choosing Controls

Related Strains

Strains carrying   Arl6tm2Vcs allele
021215   B6.129-Arl6tm2Vcs/J
018443   B6;129-Arl6tm2Vcs/J
021217   C3.129(B6)-Arl6tm2Vcs/J
View Strains carrying   Arl6tm2Vcs     (3 strains)

Strains carrying other alleles of Arl6
014606   129S.129(B6)-Arl6tm1Vcs/J
View Strains carrying other alleles of Arl6     (1 strain)


Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Bardet-Biedl Syndrome; BBS   (ARL6)
Retinitis Pigmentosa 55; RP55   (ARL6)
Retinitis Pigmentosa; RP   (ARL6)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.


        involves: 129S1/Sv * 129X1/SvJ * C57BL/6
  • vision/eye phenotype
  • *normal* vision/eye phenotype
    • inner nuclear and ganglion cell layers of retina are normal   (MGI Ref ID J:180524)
    • abnormal retinal neuronal layer morphology   (MGI Ref ID J:180524)
      • abnormal retinal outer nuclear layer morphology
      • abnormal retinal photoreceptor morphology   (MGI Ref ID J:180524)
        • absent photoreceptor inner segment   (MGI Ref ID J:180524)
        • absent photoreceptor outer segment   (MGI Ref ID J:180524)
  • nervous system phenotype
  • abnormal brain ependyma motile cilium physiology
    • ependymal cilia display a chaotic beating pattern   (MGI Ref ID J:180524)
  • abnormal brain ventricular system morphology   (MGI Ref ID J:180524)
    • abnormal brain ependyma motile cilium morphology
      • reduced number and misshapen ependymal cell cilia   (MGI Ref ID J:180524)
      • paddle shaped cilia with terminal dilatations seen in culture   (MGI Ref ID J:180524)
    • hydroencephaly
      • severe hydrocephalus   (MGI Ref ID J:180524)
  • abnormal retinal photoreceptor morphology   (MGI Ref ID J:180524)
    • absent photoreceptor inner segment   (MGI Ref ID J:180524)
    • absent photoreceptor outer segment   (MGI Ref ID J:180524)
  • abnormal sympathetic nervous system physiology
    • increased renal sympathetic nerve activity   (MGI Ref ID J:180524)
  • abnormal telencephalon morphology   (MGI Ref ID J:180524)
    • decreased striatum area
      • corpus striatum reduced in size   (MGI Ref ID J:180524)
    • small hippocampus   (MGI Ref ID J:180524)
    • thin cerebral cortex   (MGI Ref ID J:180524)
  • reproductive system phenotype
  • absent sperm flagellum
    • sperm in seminiferous tubules of 4 month old homozygotes lack flagella   (MGI Ref ID J:180524)
  • male infertility
    • males fail to produce offspring   (MGI Ref ID J:180524)
  • craniofacial phenotype
  • abnormal cranial suture morphology
    • splaying of cranial sutures   (MGI Ref ID J:180524)
  • domed cranium   (MGI Ref ID J:180524)
  • cellular phenotype
  • *normal* cellular phenotype
    • primary cilia are normal   (MGI Ref ID J:180524)
    • abnormal brain ependyma motile cilium physiology
      • ependymal cilia display a chaotic beating pattern   (MGI Ref ID J:180524)
    • absent sperm flagellum
      • sperm in seminiferous tubules of 4 month old homozygotes lack flagella   (MGI Ref ID J:180524)
  • adipose tissue phenotype
  • abnormal adipose tissue amount
    • increased fat mass but body weight is normal   (MGI Ref ID J:180524)
  • cardiovascular system phenotype
  • increased heart rate   (MGI Ref ID J:180524)
  • increased systemic arterial blood pressure
    • increased 24 hour arterial blood pressure   (MGI Ref ID J:180524)
  • behavior/neurological phenotype
  • *normal* behavior/neurological phenotype
    • mice are not hyperphagic   (MGI Ref ID J:180524)
  • skeleton phenotype
  • abnormal cranial suture morphology
    • splaying of cranial sutures   (MGI Ref ID J:180524)
  • domed cranium   (MGI Ref ID J:180524)
View Research Applications

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

Cardiovascular Research
Heart Abnormalities

Developmental Biology Research
Craniofacial and Palate Defects
      hydrocephaly: severely abnormal skull

Neurobiology Research
Cortical Defects

Reproductive Biology Research
Fertility Defects
      males only

Sensorineural Research
Retinal Degeneration

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol Arl6tm2Vcs
Allele Name targeted mutation 2, Val C Sheffield
Allele Type Targeted (Null/Knockout)
Common Name(s) Bbs3-;
Strain of Origin(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Gene Symbol and Name Arl6, ADP-ribosylation factor-like 6
Chromosome 16
Gene Common Name(s) 1110018H24Rik; 2210411E14Rik; BBS3; RIKEN cDNA 1110018H24 gene; RIKEN cDNA 2210411E14 gene; RP55;
Molecular Note Exons 6 and 7 were replaced with a neomycin selection cassette. RT-PCR and Western blot analysis confirmed that gene expression of both isoforms waqs disrupted. [MGI Ref ID J:180524]


Genotyping Information

Genotyping Protocols

Arl6tm2Vcs, Melt Curve Analysis
Arl6tm2Vcs, Separated PCR

Helpful Links

Genotyping resources and troubleshooting


References provided by MGI

Selected Reference(s)

Zhang Q; Nishimura D; Seo S; Vogel T; Morgan DA; Searby C; Bugge K; Stone EM; Rahmouni K; Sheffield VC. 2011. Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proc Natl Acad Sci U S A 108(51):20678-83. [PubMed: 22139371]  [MGI Ref ID J:180524]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           FGB27

Colony Maintenance

Breeding & HusbandryWhile maintaining a live colony, these mice are bred as heterozygotes. Males homozygous for mutation are infertile.
Diet Information LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


This strain is currently Under Development for Cryo.

Control Information

   +/+ from the colony
   002448 129S1/SvImJ (approximate)
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.

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See Terms of Use tab for General Terms and Conditions

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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