Overview

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.)

Genetic overview

Genetic Background	Generation
001198 129P4/RrRkJ

Axin1^Fu

Allele Type	Gene Symbol	Gene Name
Spontaneous	Axin1	axin 1

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Research Applications

Developmental Biology Research
Neurobiology Research
Sensorineural Research
Research Tools
Virology Research
Cell Biology Research

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Details

Detailed 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 Suggestions

Untyped from the colony
001198 129P4/RrRkJ

Additional Information

Considerations for Choosing Controls

Genetics

Axin1^Fu

Allele Symbol: Axin1^Fu

Allele Name	fused
Allele Type	Spontaneous
Allele Synonym(s)	Axin1^Fu; fused
Gene Symbol and Name	Axin1, axin 1
Gene Synonym(s)	AXIN; fused; Fu; PPP1R49; Ki; kinky; knobbly; Kb; expressed sequence AI316800; AI316800; Axin; axin-1
Strain of Origin	Bussey Institution stock
Chromosome	17
General Note	Gametic imprinting has been detected for Axin1^Fu (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 Axin1^Fu in hybrids (J:11139). The suppressor gene did not affect penetrance of Axin1^Fu in mice chimeric between C57BL/6 and a stock carrying Axin1^Fu (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.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Genotype: Axin1^Fu related

Developmental Biology Research
- Imprinting
- Neural Tube Defects
- Skeletal Defects
- Internal/Organ Defects
  - kidney
Neurobiology Research
- Neural Tube Defects
- Hearing Defects
Sensorineural Research
- Hearing Defects
Research Tools
- Genetics Research
Virology Research
Cell Biology Research
- Signal Transduction

Mammalian Phenotype Terms by Genotype

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

Genotype: Axin1^Fu/Axin1⁺
Not Specified

behavior/neurological phenotype

circling
- variable expression

renal/urinary system phenotype

abnormal kidney development

absent kidney
- one or both kidneys and ureters may be missing

urethra atresia
- imperforate urethra possible

skeleton phenotype

abnormal axial skeleton morphology

abnormal caudal vertebrae morphology

abnormal craniofacial bone morphology
- various dysmorphology can occur

abnormal vertebrae morphology

absent ribs
- number absent and frequency of absence is variable

decreased caudal vertebrae number

rib fusion
- number of ribs fused and location are variable

cellular phenotype

maternal effect
- offspring of heterozygous and homozygous Axin1^Fu mothers are less likely to express abnormalities than offspring of homozygous wild-type mothers

craniofacial phenotype

abnormal craniofacial bone morphology
- various dysmorphology can occur

digestive/alimentary phenotype

rectal atresia
- imperforate rectum possible

hearing/vestibular/ear phenotype

deafness
- associated with circling behavior

limbs/digits/tail phenotype

abnormal caudal vertebrae morphology

abnormal hindlimb morphology
- reduction in hind leg may occur

abnormal tail length
- tail length may be variable

bifurcated tail
- bifurcated tail is seen infrequently

decreased caudal vertebrae number

Genotype: Axin1^Fu/Axin1^Fu
Not Specified

behavior/neurological phenotype

circling
- variable expression

renal/urinary system phenotype

abnormal kidney development

absent kidney
- one or both kidneys and ureters may be missing

absent ureter
- one or both kidneys and ureters may be missing

urethra atresia
- imperforate urethra possible

skeleton phenotype

abnormal axial skeleton morphology

abnormal caudal vertebrae morphology

abnormal craniofacial bone morphology
- more frequent in homozygotes
- various dysmorphology can occur

abnormal vertebrae morphology

absent ribs
- number absent and frequency of absence is variable

decreased caudal vertebrae number

rib fusion
- number of ribs fused and location are variable

cellular phenotype

maternal effect
- offspring of homozygous or heterozygous Axin1^Fu mothers are less likely to express abnormalities than offspring of homozygous wild-type mothers

craniofacial phenotype

abnormal craniofacial bone morphology
- more frequent in homozygotes
- various dysmorphology can occur

digestive/alimentary phenotype

rectal atresia
- imperforate rectum possible

hearing/vestibular/ear phenotype

deafness
- seen in mouse with circling behavior

limbs/digits/tail phenotype

abnormal caudal vertebrae morphology

abnormal hindlimb morphology
- more frequent in homozygote
- reduction in hind leg may occur

abnormal tail morphology
- mitotic gene conversion events during early development produce mosaicism, an explanation for variable tail phenotype expression

bifurcated tail
- homozygotes are more likely to have bifurcated tails than heterozygotes

decreased caudal vertebrae number

short tail
- homozygotes are likely to have shorter tails than heterozygotes

Genotype: Axin1^Fu/Axin1⁺
involves: C57BL/6J * CBA/Lac

cellular phenotype

paternal imprinting
- Penetrance of the fused phenotype is decreased when transmitted from males injected with hydrocortisone acetate prior to breeding.

Genotype: Axin1^Fu/Axin1⁺
involves: 129/Rr * C3H/He * C57BL/6J

cellular phenotype

genetic imprinting
- 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

Genotype: Axin1^Fu/Axin1⁺
involves: 129/Rr * C3H/He * C57BL/6J * wild

cellular phenotype

genetic imprinting
- Background Sensitivity - 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

Genotype: Axin1^Fu/Axin1⁺
involves: 129P4/RrRk * TF/Le

normal phenotype

reversion by viral sequence excision
- many instances of non-expression of the fused phenotype are not due to redueced penetrance but rather to spontaneous viral excision

Genotype: Axin1^Fu/Axin1⁺
involves: M. m. bactrianus

normal phenotype

no abnormal phenotype detected
- Normal - dominant skeletal abnormalities are not observed in mice of this genotype and background

The following phenotype relates to a compound genotype created using this strain

Genotype: Axin1^Fu/Axin1⁺
129P4.Cg-Axin1/J

cellular phenotype

genetic imprinting
- severity of phenotype is transmitted, particularly through males

maternal imprinting
- penetrant heterozygous dams transmit 46% penetrant and 54% silent offspring and non-penetrant heterozygous dams transmit 30% penetrant and 70% silent offspring

paternal imprinting
- 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 heterozygotes

References

Additional References

Ruvinsky AO; Agulnik AI. 1990. Gametic imprinting and the manifestation of the fused gene in the house mouse. Dev Genet 11(4):263-9PubMed: 2090373 MGI: J:11139
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):183-7PubMed: 8082835 MGI: J:19657
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):181-92PubMed: 9230313 MGI: J:41619
Sakanaka C; Williams LT. 1999. Functional domains of axin. Importance of the C terminus as an oligomerization domain. J Biol Chem 274(20):14090-3PubMed: 10318824 MGI: J:54993
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):741-56PubMed: 10330403 MGI: J:55044
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):135-47PubMed: 11132407 MGI: J:68896
Flood WD; Ruvinsky A. 2001. Alternative splicing and expressivity of the AxinFu allele in mice. Heredity 87(Pt 2):146-52PubMed: 11703504 MGI: 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):2538-43PubMed: 12601169 MGI: J:82396

Additional - Axin1^Fu related

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Genotyping Protocols
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Citation
When using the 129P4.Cg-Axin1^Fu/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000212 in your Materials and Methods section.

Animal Health Reports

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

Pricing & Availability

Cryo Recovery

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Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous and Wild-type for Axin1<Fu> 1 pair minimum

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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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Axin1Fu

Allele Symbol: Axin1Fu

Disease Terms

Research Areas By Genotype

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

Genotype: Axin1Fu related

Mammalian Phenotype Terms by Genotype

Genotype: Axin1Fu/Axin1+Not Specified

behavior/neurological phenotype

renal/urinary system phenotype

skeleton phenotype

cellular phenotype

craniofacial phenotype

digestive/alimentary phenotype

hearing/vestibular/ear phenotype

limbs/digits/tail phenotype

Genotype: Axin1Fu/Axin1FuNot Specified

behavior/neurological phenotype

renal/urinary system phenotype

skeleton phenotype

cellular phenotype

craniofacial phenotype

digestive/alimentary phenotype

hearing/vestibular/ear phenotype

limbs/digits/tail phenotype

Genotype: Axin1Fu/Axin1+involves: C57BL/6J * CBA/Lac

cellular phenotype

Genotype: Axin1Fu/Axin1+involves: 129/Rr * C3H/He * C57BL/6J

cellular phenotype

Genotype: Axin1Fu/Axin1+involves: 129/Rr * C3H/He * C57BL/6J * wild

cellular phenotype

Genotype: Axin1Fu/Axin1+involves: 129P4/RrRk * TF/Le

normal phenotype

Genotype: Axin1Fu/Axin1+involves: M. m. bactrianus

normal phenotype

Genotype: Axin1Fu/Axin1+129P4.Cg-Axin1/J

cellular phenotype

References

Additional References

Additional - Axin1Fu related

Genotyping Protocols

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Axin1^Fu

Allele Symbol: Axin1^Fu

Genotype: Axin1^Fu related

Genotype: Axin1^Fu/Axin1⁺
Not Specified

Genotype: Axin1^Fu/Axin1^Fu
Not Specified

Genotype: Axin1^Fu/Axin1⁺
involves: C57BL/6J * CBA/Lac

Genotype: Axin1^Fu/Axin1⁺
involves: 129/Rr * C3H/He * C57BL/6J

Genotype: Axin1^Fu/Axin1⁺
involves: 129/Rr * C3H/He * C57BL/6J * wild

Genotype: Axin1^Fu/Axin1⁺
involves: 129P4/RrRk * TF/Le

Genotype: Axin1^Fu/Axin1⁺
involves: M. m. bactrianus

Genotype: Axin1^Fu/Axin1⁺
129P4.Cg-Axin1/J

Additional - Axin1^Fu related