Description

Strain Information

Former Names C3.B6-Iftoflexo/J    (Changed: 26-SEP-12 ) Type Chemically Induced Mutation; Congenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Mating System Wild-type x Heterozygote         (Female x Male)   18-OCT-12 Mating System Heterozygote x Wild-type         (Female x Male)   18-OCT-12 Species laboratory mouse Generation +pN1+N1F (09-MAY-13) Generation Definitions   Donating Investigator Lee Niswander,   University of Colorado, Denver

Description
Ift88 (intraflagellar transport 88) encodes one of several proteins that are required for the formation and maintenance of flagella and cilia. They play a critical role in the positive and negative transcriptional activities of Gli proteins, effectors of Hedgehog signaling during development.

This recessive hypomorphic allele of Ift88 involves a point mutation that creates an in-frame transcriptional skip of exon 16. This results in a deletion of 29 amino acids from the protein that encode a portion of a tetratricopeptide repeat. A normal transcript is detected at very low levels and shortened cilia are detected in ventral node cells.

Homozygous mutants are embryonic lethal by E12.5 and have low penetrance neural tube closure defects, craniofacial defects, inverted heart looping, polydactyly (6-9 digits) in all four limbs, and delayed bone development. Heterozygotes are viable and fertile.

Development
Progeny of ENU-treated C57BL/6 males were screened at E 9.5 for embryonic patterning mutations. This hypomorphic "flexo" allele involves a T to C mutation in the second nucleotide of intron 16 that results in the transcriptional/translational "skip" of exon 16. This line was backcrossed to C3H/HeNCrl for many generations by the donating lab.

Control Information

	Control
	Wild-type from the colony
	000635 C3H/HeOuJ
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Ift88

022409

B6.129P2-Ift88tm1Bky/J

View Strains carrying other alleles of Ift88     (1 strain)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Ift88^fxo/Ift88^fxo

        C3.B6J-Ift88^fxo

• mortality/aging
• complete embryonic lethality during organogenesis
  • development is arrested at E12.5-E13.5   (MGI Ref ID J:86437)
• nervous system phenotype
• abnormal floor plate morphology
  • lack of ventral midline groove in the neural plate   (MGI Ref ID J:86437)
• abnormal midbrain morphology
  • sharp angle to mesencephalic flexure at E9.5-E10.5   (MGI Ref ID J:86437)
• limbs/digits/tail phenotype
• polydactyly
  • preaxial polydactyly   (MGI Ref ID J:86437)
• embryogenesis phenotype
• abnormal floor plate morphology
  • lack of ventral midline groove in the neural plate   (MGI Ref ID J:86437)

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Ift88^fxo/Ift88^fxo

        involves: C3HeB/FeJ * C57BL/6J

• mortality/aging
• complete embryonic lethality during organogenesis
  • die at E13-E14   (MGI Ref ID J:98216)
• nervous system phenotype
• abnormal diencephalon morphology   (MGI Ref ID J:98216)
• absent floor plate
  • no floor plate in the caudal spinal cord   (MGI Ref ID J:98216)
• embryogenesis phenotype
• abnormal left-right axis patterning
  • left-right randomization   (MGI Ref ID J:98216)
• absent floor plate
  • no floor plate in the caudal spinal cord   (MGI Ref ID J:98216)
• limbs/digits/tail phenotype
• polydactyly   (MGI Ref ID J:98216)

View Research Applications

Research Applications

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

Developmental Biology Research
Craniofacial and Palate Defects
Embryonic Lethality (Homozygous)
Internal/Organ Defects
      heart
      situs inversus
Skeletal Defects
      polydactyly

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Ift88fxo
Allele Name		flexo
Allele Type		Chemically induced (ENU)
Common Name(s)		Ift88flexo; Ift88hypo; fxo; polarisfxo;
Mutation Made By		Lee Niswander,   University of Colorado, Denver
Strain of Origin		C57BL/6J
Gene Symbol and Name		Ift88, intraflagellar transport 88
Chromosome		14
Gene Common Name(s)		AW552028; D13S1056E; DAF19; Oak Ridge polycystic kidneys; TG737; TTC10; Tg737Rpw; TgN737Rpw; Ttc10; expressed sequence AW552028; fxo; hTg737; orpk; polaris; tetratricopeptide repeat domain 10; transgene insert site 737, insertional mutation, polycystic kidney disease;
General Note		This allele is hypomorphic. The mutation causes abnormal embryonic morphology at mid-gestation (~E9.5). Homozygous mutant embryos had a weak neural phenotype: the floor plate was absent at most levels in the neural tube, whereas markers of V3 interneurons and motor neurons were expressed. Double heterozygous fxo/Ttc10tm1Rpw embryos die at E12.5-13.5 with morphology similar to that of fxo homozygotes.
Molecular Note		This is a recessive ENU mutation identified in a screen for morphological abnormalities appearing at E9.5. Exon 16 of the gene has been deleted resulting in an "in frame" deletion of 29 amino acids. This results in the loss of 1 out of 10 tetratricopeptide repeats. This is a hypomorphic allele. [MGI Ref ID J:86437]

Genotyping

Genotyping Information

Genotyping Protocols

Ift88^flexoPyro, Pyrosequencing

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Huangfu D; Liu A; Rakeman AS; Murcia NS; Niswander L; Anderson KV. 2003. Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature 426(6962):83-7. [PubMed: 14603322]  [MGI Ref ID J:86437]

Additional References

Ift88^fxo related

Garcia-Garcia MJ; Eggenschwiler JT; Caspary T; Alcorn HL; Wyler MR; Huangfu D; Rakeman AS; Lee JD; Feinberg EH; Timmer JR; Anderson KV. 2005. Inaugural Article: Analysis of mouse embryonic patterning and morphogenesis by forward genetics. Proc Natl Acad Sci U S A 102(17):5913-9. [PubMed: 15755804]  [MGI Ref ID J:98216]

Liu A; Wang B; Niswander LA. 2005. Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors. Development 132(13):3103-11. [PubMed: 15930098]  [MGI Ref ID J:98800]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           FGB29

Colony Maintenance

Breeding & Husbandry	Heterozygotes are viable and fertile, but homozygotes die by day E12.5 of embryonic development. Litter sizes are reported to be smaller than those of inbred C3H mice.
Mating System	Wild-type x Heterozygote         (Female x Male)   18-OCT-12
	Heterozygote x Wild-type         (Female x Male)   18-OCT-12
Diet Information	LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

Control Information

	Control
	Wild-type from the colony
	000635 C3H/HeOuJ
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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.

---

Ordering Information
JAX^® Mice
Surgical and Preconditioning Services
JAX^® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.