Description

Strain Information

Former Names 129P4.Cg-AxinFu/J    (Changed: 23-NOV-05 ) Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Background Strain 129P4/RrRkJ Donor Strain Mixed stock from Bussey Institute Generation N31F56p

Description
The fused mutation is dominant and generally more severe in homozygotes, but has highly varying penetrance in both the heterozygote and homozygote, to the extent that some homozygotes do not have an abnormal phenotype. Phenotypic traits of mice carrying the Axin1^Fu allele include shortened, bifurcated, or absent tails, kinked tails with fused vertebrae, other asymmetrical fusions of vertebrae, axial duplications, and ribs fused at the proximal ends. Imperforate anus, anemia at birth, waltzing movement, deafness, and missing or abnormal kidneys have also been reported. Both heterozygotes and homozygotes are generally fertile although female carriers transmit with a lower penetrance than males do. (Reed, 1936; Dunn and Gluecksohn-Waelsch, 1954; Theiler and Gluecksohn-Waelsch, 1956.)

Development
Fused (Axin1^Fu) arose in stocks at the Bussy Institute at Harvard prior to 1931. It was first maintained at The Jackson Laboratory by Dr. Leroy Stevens in 1958 on a 129 background. It was then taken by Dr. Meredith Runner and maintained on the 129RrDg background to N31 in 1967. During this time it was bred by backcrossing a fused heterozygous male to a 129RrDg female. In 1967 the stock was maintained by Dr. Margaret Green, and was inbred by mating a heterozygous affected male to a normal non-fused female sibling. It was cryopreserved in 1985 by mating heterozygous expressing males to +/+ females or vice versa at N31F55.

Control Information

	Control
	Untyped from the colony
	001198 129P4/RrRkJ
Considerations for Choosing Controls

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Axin1^Fu/Axin1⁺

        129P4.Cg-Axin1^Fu/J

• cellular phenotype
• genomic imprinting (MGI Ref ID J:82396)
  • severity of phenotype is transmitted, particularly through males
• maternal imprinting (MGI Ref ID J:82396)
  • penetrant heterozygous dams transmit 46% penetrant and 54% silent offspring and non-penetrant heterozygous dams transmit 30% penetrant and 70% silent offspring
• paternal imprinting (MGI Ref ID J:82396)
  • penetrant heterozygous sires transmit 76% penetrant offspring while non-penetrant heterozygous sires transmit only 60% penetrant offspring.
  • the LTR/intron 6 region is heavily methylated in non-penetrant heterozygotes and relatively hypomethylated in penetrant heterozgyotes

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

Axin1^Fu/Axin1⁺

        Background Not Specified

• skeleton phenotype
• *normal* skeleton phenotype (MGI Ref ID J:12953)
• abnormal axial skeleton morphology (MGI Ref ID J:12953)
• abnormal vertebrae morphology (MGI Ref ID J:12953)
• abnormal caudal vertebrae morphology (MGI Ref ID J:12953)
• decreased caudal vertebrae number (MGI Ref ID J:12953)
• absent ribs (MGI Ref ID J:12953)
  • number absent and frequency of absence is variable
• rib fusion (MGI Ref ID J:12953)
  • number of ribs fused and location are variable
• abnormal craniofacial bone morphology (MGI Ref ID J:12112)
  • various dysmorphology can occur
• abnormal skeleton extremities morphology (MGI Ref ID J:12953)
  • reduction in hind leg may occur
• limbs/digits/tail phenotype
• abnormal skeleton extremities morphology (MGI Ref ID J:12953)
  • reduction in hind leg may occur
• abnormal caudal vertebrae morphology (MGI Ref ID J:12953)
• decreased caudal vertebrae number (MGI Ref ID J:12953)
• abnormal tail morphology (MGI Ref ID J:12953)
  • tail length may be variable
  • bifurcated tail is seen infrequently
• abnormal caudal vertebrae morphology (MGI Ref ID J:12953)
• decreased caudal vertebrae number (MGI Ref ID J:12953)
• behavior/neurological phenotype
• circling (MGI Ref ID J:242)
  • variable expression
• hearing/vestibular/ear phenotype
• circling (MGI Ref ID J:242)
  • variable expression
• deafness (MGI Ref ID J:242)
  • associated with circling behavior
• craniofacial phenotype
• abnormal craniofacial bone morphology (MGI Ref ID J:12112)
  • various dysmorphology can occur
• renal/urinary system phenotype
• abnormal kidney development (MGI Ref ID J:12112)
• abnormal urethra morphology (MGI Ref ID J:12112)
  • imperforate urethra possible
• absent kidney (MGI Ref ID J:12112)
  • one or both kidneys and ureters may be missing
• digestive/alimentary phenotype
• abnormal rectum morphology (MGI Ref ID J:12112)
  • imperforate rectum possible

Axin1^Fu/Axin1⁺

        involves: C57BL/6J * CBA/Lac

• cellular phenotype
• paternal imprinting (MGI Ref ID J:133043)
  • Penetrance of the fused phenotype is decreased when transmitted from males injected with hydrocortisone acetate prior to breeding.

Axin1^Fu/Axin1⁺

        involves: 129/Rr * C3H/He * C57BL/6J

• cellular phenotype
• genomic imprinting (MGI Ref ID J:6577)
  • penetrance is reduced when transmitted from males, rather than females, when the fused carrier parent is of a mixed 129/Rr and C3H/He background and the non-carrier parent is a tufted homozygote on the C57BL/6J background
• paternal imprinting (MGI Ref ID J:6577)

Axin1^Fu/Axin1⁺

        involves: 129/Rr * C3H/He * C57BL/6J * wild

• cellular phenotype
• genomic imprinting (MGI Ref ID J:6577)
  • a homozygote on a mixed background transmits lower penetrance of fused when bred to a wild mouse from the environs of Novosibirsk than when bred to a C3H mouse

Axin1^Fu/Axin1⁺

        involves: 129P4/RrRk * TF/Le

• normal phenotype
• reversion by viral sequence excision (MGI Ref ID J:68896)
  • many instances of non-expression of the fused phenotype are not due to redueced penetrance but rather to spontaneous viral excision

Axin1^Fu/Axin1^Fu

        Background Not Specified

• behavior/neurological phenotype
• circling (MGI Ref ID J:242)
  • variable expression
• craniofacial phenotype
• abnormal craniofacial bone morphology (MGI Ref ID J:242)
  • various dysmorphology can occur
  • more frequent in homozygotes
• digestive/alimentary phenotype
• abnormal rectum morphology (MGI Ref ID J:12112)
  • imperforate rectum possible
• hearing/vestibular/ear phenotype
• circling (MGI Ref ID J:242)
  • variable expression
• deafness (MGI Ref ID J:242)
  • seen in mouse with circling behavior
• limbs/digits/tail phenotype
• abnormal skeleton extremities morphology (MGI Ref ID J:12953)
  • reduction in hind leg may occur
  • more frequent in homozygote
• abnormal caudal vertebrae morphology (MGI Ref ID J:12953)
• decreased caudal vertebrae number (MGI Ref ID J:12953)
• abnormal tail morphology (MGI Ref ID J:12953)
  • homozygotes are likely to have shorter tails than heterozygotes
  • homozygotes are more likely to have bifurcated tails than heterozygotes
  • mitotic gene conversion events during early development produce mosaicism, an explanation for variable tail phenotype expression
• abnormal caudal vertebrae morphology (MGI Ref ID J:12953)
• decreased caudal vertebrae number (MGI Ref ID J:12953)
• renal/urinary system phenotype
• abnormal kidney development (MGI Ref ID J:12112)
• abnormal urethra morphology (MGI Ref ID J:12112)
  • imperforate urethra possible
• absent kidney (MGI Ref ID J:12953)
  • one or both kidneys and ureters may be missing
• skeleton phenotype
• *normal* skeleton phenotype (MGI Ref ID J:12953)
• abnormal axial skeleton morphology (MGI Ref ID J:12953)
• abnormal vertebrae morphology (MGI Ref ID J:12953)
• abnormal caudal vertebrae morphology (MGI Ref ID J:12953)
• decreased caudal vertebrae number (MGI Ref ID J:12953)
• absent ribs (MGI Ref ID J:12953)
  • number absent and frequency of absence is variable
• rib fusion (MGI Ref ID J:12953)
  • number of ribs fused and location are variable
• abnormal craniofacial bone morphology (MGI Ref ID J:242)
  • various dysmorphology can occur
  • more frequent in homozygotes
• abnormal skeleton extremities morphology (MGI Ref ID J:12953)
  • reduction in hind leg may occur
  • more frequent in homozygote

View Research Applications

Research Applications

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

Axin1^Fu related

Cell Biology Research
Signal Transduction

Developmental Biology Research
Imprinting
Internal/Organ Defects (kidney)
Neural Tube Defects
Skeletal Defects

Neurobiology Research
Neural Tube Defects
Vestibular and Hearing Defects

Research Tools
Genetics Research

Sensorineural Research
Vestibular and Hearing Defects

Virology Research

Genes & Alleles

Gene & Allele Information

Allele Symbol		Axin1Fu
Allele Name		fused
Allele Type		Spontaneous
Common Name(s)		Fu;
Gene Symbol and Name		Axin1, axin 1
Chromosome		17
Gene Common Name(s)		AI316800; AXIN; Fu; Kb; Ki; MGC52315; expressed sequence AI316800; fused; kinky; knobbly;
General Note		Offspring of homozygous or heterozygous Axin1Fu mothers are less likely to express the character than offspring of homozygous wild-type mothers (J:12953). Gametic imprinting has been detected for Axin1Fu (J:11139), and the locus may be affected by inherited inactivation (J:6577). Penetrance is affected by the genetic background, although expressivity is not. A suppressor gene in C57BL/6 decreases the penetrance of Axin1Fu in hybrids (J:11139). The suppressor gene did not affect penetrance of Axin1Fu in mice chimeric between C57BL/6 and a stock carrying Axin1Fu (J:19657).
Molecular Note		The mutation is an IAP retrotransposon insertion within the sixth intron that results in the production of wild-type transcripts as well as mutant transcripts that initiate at both the authentic promoter and the 3'-most long terminal repeat of the insertion. [MGI Ref ID J:41619] [MGI Ref ID J:43298] [MGI Ref ID J:72363]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Fagotto F; Jho Eh; Zeng L; Kurth T; Joos T; Kaufmann C; Costantini F. 1999. Domains of axin involved in protein-protein interactions, Wnt pathway inhibition, and intracellular localization. J Cell Biol 145(4):741-56. [PubMed: 10330403]  [MGI Ref ID J:55044]

Flood WD; Ruvinsky A. 2001. Alternative splicing and expressivity of the AxinFu allele in mice. Heredity 87(Pt 2):146-52. [PubMed: 11703504]  [MGI Ref ID J:72363]

Rakyan VK; Chong S; Champ ME; Cuthbert PC; Morgan HD; Luu KV; Whitelaw E. 2003. Transgenerational inheritance of epigenetic states at the murine Axin(Fu) allele occurs after maternal and paternal transmission. Proc Natl Acad Sci U S A 100(5):2538-43. [PubMed: 12601169]  [MGI Ref ID J:82396]

Redina OE; Zhelezova AI; Golubitsa AN; Agulnik AI; Ruvinsky AO. 1994. Phenotypic expression of the fused (Fu) gene in chimaeric mice. Genet Res 63(3):183-7. [PubMed: 8082835]  [MGI Ref ID J:19657]

Ruvinsky A; Flood WD; Zhang T; Costantini F. 2000. Unusual inheritance of the AxinFu mutation in mice is associated with widespread rearrangements in the proximal region of chromosome 17. Genet Res 76(2):135-47. [PubMed: 11132407]  [MGI Ref ID J:68896]

Ruvinsky AO; Agulnik AI. 1990. Gametic imprinting and the manifestation of the fused gene in the house mouse. Dev Genet 11(4):263-9. [PubMed: 2090373]  [MGI Ref ID J:11139]

Sakanaka C; Williams LT. 1999. Functional domains of axin. Importance of the C terminus as an oligomerization domain. J Biol Chem 274(20):14090-3. [PubMed: 10318824]  [MGI Ref ID J:54993]

Zeng L; Fagotto F; Zhang T; Hsu W; Vasicek TJ; Perry WL 3rd ; Lee JJ ; Tilghman SM ; Gumbiner BM ; Costantini F. 1997. The mouse Fused locus encodes Axin, an inhibitor of the Wnt signaling pathway that regulates embryonic axis formation. Cell 90(1):181-92. [PubMed: 9230313]  [MGI Ref ID J:41619]

Axin1^Fu related

Belyaev DK; Ruvinsky AO; Agulnik AI; Agulnik SI. 1983. Effect of hydrocortisone on the phenotypic expression and inhertance of the Fused gene in mice Theor Appl Genet 64:275-281.  [MGI Ref ID J:133043]

Belyaev DK; Ruvinsky AO; Borodin PM. 1981. Inheritance of alternative states of the fused gene in mice. J Hered 72(2):107-12. [PubMed: 7276510]  [MGI Ref ID J:6577]

Dunn LC; Caspari E. 1945. A Case of Neighboring Loci with Similar Effects. Genetics 30(6):543-68. [PubMed: 17247179]  [MGI Ref ID J:242]

Dunn LC; Gluecksohn-Waelsch S. 1954. A genetical study of the mutation "fused" in the house mouse, with evidence concerning its allelism with a similar mutation "kink". J Genet 52:383-91.  [MGI Ref ID J:244]

Flood WD; Ruvinsky A. 2001. Alternative splicing and expressivity of the AxinFu allele in mice. Heredity 87(Pt 2):146-52. [PubMed: 11703504]  [MGI Ref ID J:72363]

Lu Z; Liu W; Huang H; He Y; Han Y; Rui Y; Wang Y; Li Q; Ruan K; Ye Z; Low BC; Meng A; Lin SC. 2008. Protein encoded by the Axin(Fu) allele effectively down-regulates Wnt signaling but exerts a dominant negative effect on c-Jun N-terminal kinase signaling. J Biol Chem 283(19):13132-9. [PubMed: 18316368]  [MGI Ref ID J:137089]

Rakyan VK; Chong S; Champ ME; Cuthbert PC; Morgan HD; Luu KV; Whitelaw E. 2003. Transgenerational inheritance of epigenetic states at the murine Axin(Fu) allele occurs after maternal and paternal transmission. Proc Natl Acad Sci U S A 100(5):2538-43. [PubMed: 12601169]  [MGI Ref ID J:82396]

Redina OE; Zhelezova AI; Golubitsa AN; Agulnik AI; Ruvinsky AO. 1994. Phenotypic expression of the fused (Fu) gene in chimaeric mice. Genet Res 63(3):183-7. [PubMed: 8082835]  [MGI Ref ID J:19657]

Reed SC. 1937. The Inheritance and Expression of Fused, a New Mutation in the House Mouse. Genetics 22(1):1-13. [PubMed: 17246824]  [MGI Ref ID J:12953]

Ruvinsky A; Flood W; Costantini F. 2001. Developmental mosaicism may explain spontaneous reappearance of the Axin(Fu) mutation in mice. Genesis 29(2):49-54. [PubMed: 11170344]  [MGI Ref ID J:67881]

Ruvinsky A; Flood WD; Zhang T; Costantini F. 2000. Unusual inheritance of the AxinFu mutation in mice is associated with widespread rearrangements in the proximal region of chromosome 17. Genet Res 76(2):135-47. [PubMed: 11132407]  [MGI Ref ID J:68896]

Ruvinsky AO; Agulnik AI. 1990. Gametic imprinting and the manifestation of the fused gene in the house mouse. Dev Genet 11(4):263-9. [PubMed: 2090373]  [MGI Ref ID J:11139]

THEILER K; GLUECKSOHN-WAELSCH S. 1956. The morphological effects and the development of the fused mutation in the mouse. Anat Rec 125(1):83-103. [PubMed: 13340237]  [MGI Ref ID J:12112]

Vasicek TJ; Zeng L; Guan XJ; Zhang T; Costantini F; Tilghman SM. 1997. Two dominant mutations in the mouse fused gene are the result of transposon insertions. Genetics 147(2):777-86. [PubMed: 9335612]  [MGI Ref ID J:43298]

Waterland RA; Dolinoy DC; Lin JR; Smith CA; Shi X; Tahiliani KG. 2006. Maternal methyl supplements increase offspring DNA methylation at Axin Fused. Genesis 44(9):401-6. [PubMed: 16868943]  [MGI Ref ID J:114473]

Zeng L; Fagotto F; Zhang T; Hsu W; Vasicek TJ; Perry WL 3rd ; Lee JJ ; Tilghman SM ; Gumbiner BM ; Costantini F. 1997. The mouse Fused locus encodes Axin, an inhibitor of the Wnt signaling pathway that regulates embryonic axis formation. Cell 90(1):181-92. [PubMed: 9230313]  [MGI Ref ID J:41619]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Untyped from the colony
	001198 129P4/RrRkJ
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

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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Ordering and Purchasing Information

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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

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

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (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 with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’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, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

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The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory 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 The Jackson Laboratory, 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 The Jackson Laboratory, 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 services by The Jackson Laboratory.