Description

Strain Information

Former Names Bent Tail    (Changed: 15-DEC-04 ) Type Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Type Inbred Strain; Additional information on Inbred Strains. Species laboratory mouse Generation F79p

Appearance
black
Related Genotype: a/a

Important Note
This strain is segregating for Zic3^Bn.

Description
In the early 1950s, a wild type female from the Namru strain was crossed with a bald hr^ba/hr^ba male and one of the pups produced was a male with a bent tail. Pedigree tests revealed the underlying mutation to be semidominant and carried on the X chromosome. The predominant phenotypic trait of kinked, shortened tails results from mis-formed, smaller, and absent tail vertebrae. Heterozygous females have varied expressivity spanning a broad phenotypic range including mice with no apparent phenotype and mice with multiply kinked and shortened tails. Hemizygous males have the highest expressivity; the tail is shortened in some cases to half the normal length and in the most severe cases the kinks in the tail will cause the tail to bend sharply. In males the tail kinks are more common in the distal than the proximal half of the tail. Heterozygous females are fertile, but hemizygous males and homozyous females have decreased viability and fertility. The number of affected offspring is lower than expected. This is believed to result from in utero death as evidenced by an increase in resorption. The kinked and shortened tails likely result from neural tube defects. More than 10% of BNT/Le embryos have exencephaly. Orofacial schisis, eye defects, abnormal transition from a lordotic to a kyphotic curvature during neurulation, and omphalocele have also been found in these embryos. Mutant mice are smaller in overall body size and have an increased incidence of an interfrontal bone. As with ZIC3 mutations in humans, situs ambiguus was found in more than 50% of Bn/Y males and 38% of carrier females. (Garber ED, 1952, Science; Garber ED, 1952, PNAS; Gruneberg H., 1955; Johnson DR, 1976; Gebbia et al., 1997; Klootwijk et al., 2000.)

Non-disjunction was found to occur in the BNT/Le-a/a Bn/+ strain at a frequency of at least 4.4% and is thought to be a characteristic of this inbred background rather than due to the bent tail mutation. When female heterozygotes were crossed to Mus castaneus no bent tail phenotype was found in more than 40 F1 female offspring examined, which the authors point to as an indication of the importance of modifier loci in the expression of this phenotype. (Carrel et al., 2000)

Development
The genetic origins of the BNT/Le inbred strain are partially uncertain. The bald allele of hairless (probably now extinct) arose in an albino strain of unknown origin (Garber ED, 1952 J. Heredity v. 43 p.45.). The Namru strain was being inbred from albino mice of ABC stock at the time that a female from this strain was bred to a homozygous bald (hr^ba/hr^ba) male (Garber and Hauth, 1950 J. Heredity v.41 p.122). One of the male pups born from this mating had the bent tail mutation and when mated to a wild type sibling, produced affected females (some very mildly) and wild type males. The strain currently held by The Jackson Laboratory derived from C57BL/6J congenic breeder pairs sent by A. B. Griffin in April, 1960. The records indicate that these mice were at least at N10 (possibly N12) and they were sibling mated when they arrived at The Jackson Laboratory until they reached F27 in July, 1968, at which time carrier males were outcrossed to B6CBAF1 females. The offspring were sibling mated after that and reached F83 in 1986. Embryos were frozen during 1985 and 1986. (Garber ED, 1952. PNAS; Garber ED, 1952. Science.)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Heterotaxy, Visceral, 1, X-Linked; HTX1 - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Zic3^Bn/Zic3⁺

        BNT/LeJ

• growth/size phenotype
• situs ambiguus (MGI Ref ID J:62608)
  • abnormal organ position, found in more than 50% of Bn/Y males and 38% of carrier females
• limbs/digits/tail phenotype
• decreased caudal vertebrae number (MGI Ref ID J:63168)
  • fewer caudal vertebrae than normal
• kinked tail (MGI Ref ID J:14983)
  • one or more bends
• short tail (MGI Ref ID J:14983)
  • variable and milder severity compared to homozygous females and hemizygous males
• skeleton phenotype
• decreased caudal vertebrae number (MGI Ref ID J:63168)
  • fewer caudal vertebrae than normal

Zic3^Bn/Zic3^Bn

        BNT/LeJ

• lethality-prenatal/perinatal
• prenatal lethality (MGI Ref ID J:63168)
  • approximately 1/4 of animals are lost due to early lethality
• life span-post-weaning/aging
• premature death (MGI Ref ID J:13124)
• craniofacial phenotype
• abnormal skull morphology (MGI Ref ID J:5776)
  • interfrontal bone is often present and the skull is slightly wider than normal
• abnormal neurocranium morphology (MGI Ref ID J:5776)
• cranioschisis (MGI Ref ID J:63168)
  • variable penetrance
• growth/size phenotype
• postnatal growth retardation (MGI Ref ID J:63168)
  • in the most severely affected animals
• situs ambiguus (MGI Ref ID J:62608)
  • abnormal organ position, found in more than 50% of Bn/Y males and 38% of carrier females
• limbs/digits/tail phenotype
• decreased caudal vertebrae number (MGI Ref ID J:63168)
  • fewer and smaller caudal vertebrae than normal; more severe than heterozygous female
• kinked tail (MGI Ref ID J:13124)
• short tail (MGI Ref ID J:13124)
• reproductive system phenotype
• reduced fertility (MGI Ref ID J:14983)
  • number of affected offspring is lower than expected
• skeleton phenotype
• abnormal skull morphology (MGI Ref ID J:5776)
  • interfrontal bone is often present and the skull is slightly wider than normal
• abnormal neurocranium morphology (MGI Ref ID J:5776)
• cranioschisis (MGI Ref ID J:63168)
  • variable penetrance
• decreased caudal vertebrae number (MGI Ref ID J:63168)
  • fewer and smaller caudal vertebrae than normal; more severe than heterozygous female
• nervous system phenotype
• exencephaly (MGI Ref ID J:63168)
  • variable penetrance
• open neural tube (MGI Ref ID J:63168)
  • variable penetrance, in the sacral region; omphalocele and ventral midline closure defects noted in small numbers of embryos

View Research Applications

Research Applications

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

Reproductive Biology Research
Meiotic Nondisjunction Studies

Research Tools
Genetics Research (Meiotic Nondisjunction Studies)

Zic3^Bn related

Cell Biology Research
Transcriptional Regulation

Developmental Biology Research
Embryonic Lethality (Homozygous)
Eye Defects
Neural Tube Defects
Skeletal Defects

Mouse/Human Gene Homologs
situs inversus

Neurobiology Research
Neural Tube Defects
Neurodevelopmental Defects (Joubert syndrome)

Genes & Alleles

Gene & Allele Information

Allele Symbol		Zic3Bn
Allele Name		bent tail
Allele Type		Spontaneous
Common Name(s)		Bn;
Strain of Origin		(NAMRU x Hr)F1
Gene Symbol and Name		Zic3, zinc finger protein of the cerebellum 3
Chromosome		X
Gene Common Name(s)		Bn; HTX; HTX1; RGD1561261; ZNF203; bent tail;
Molecular Note		The Bn mutation is caused by a deletion of ~60 to 170 kb in size. The deletion is known to include Zic3 and DXMit208. [MGI Ref ID J:62608] [MGI Ref ID J:63168]

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

Aruga J; Nagai T; Tokuyama T; Hayashizaki Y; Okazaki Y; Chapman VM; Mikoshiba K. 1996. The mouse zic gene family. Homologues of the Drosophila pair-rule gene odd-paired. J Biol Chem 271(2):1043-7. [PubMed: 8557628]  [MGI Ref ID J:30607]

Gebbia M; Ferrero GB; Pilia G; Bassi MT; Aylsworth A; Penman-Splitt M; Bird LM; Bamforth JS; Burn J; Schlessinger D; Nelson DL; Casey B. 1997. X-linked situs abnormalities result from mutations in ZIC3 [see comments] Nat Genet 17(3):305-8. [PubMed: 9354794]  [MGI Ref ID J:59280]

Johnson DR. 1976. The interfrontal bone and mutant genes in the mouse. J Anat 121(3):507-13. [PubMed: 1018005]  [MGI Ref ID J:5776]

Klootwijk R; Franke B; van Der Zee CE; de Boer RT; Wilms W; Hol FA; Mariman EC. 2000. A deletion encompassing zic3 in bent tail, a mouse model for X-linked neural tube defects Hum Mol Genet 9(11):1615-22. [PubMed: 10861288]  [MGI Ref ID J:63168]

Nagai T; Aruga J; Takada S; Gunther T; Sporle R; Schughart K ; Mikoshiba K. 1997. The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation. Dev Biol 182(2):299-313. [PubMed: 9070329]  [MGI Ref ID J:38554]

Zic3^Bn related

Aruga J; Ogura H; Shutoh F; Ogawa M; Franke B; Nagao S; Mikoshiba K. 2004. Locomotor and oculomotor impairment associated with cerebellar dysgenesis in Zic3-deficient (Bent tail) mutant mice. Eur J Neurosci 20(8):2159-67. [PubMed: 15450095]  [MGI Ref ID J:101328]

Carrel T; Purandare SM; Harrison W; Elder F; Fox T; Casey B; Herman GE. 2000. The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus Hum Mol Genet 9(13):1937-42. [PubMed: 10942421]  [MGI Ref ID J:62608]

Franke B; Klootwijk R; Lemmers B; de Kovel CG; Steegers-Theunissen RP; Mariman EC. 2003. Phenotype of the neural tube defect mouse model bent tail is not sensitive to maternal folinic acid, myo-inositol, or zinc supplementation. Birth Defects Res Part A Clin Mol Teratol 67(12):979-84. [PubMed: 14745918]  [MGI Ref ID J:87145]

Garber ED. 1952. 'Bent-Tail,' A Dominant, Sex-Linked Mutation in the Mouse. Proc Natl Acad Sci U S A 38(10):876-9. [PubMed: 16589192]  [MGI Ref ID J:13124]

Gruneberg H. 1955. Genetical studies on the skeleton of the mouse. XVII. Bent-tail J Genet 53:551-62.  [MGI Ref ID J:14983]

Inoue T; Ogawa M; Mikoshiba K; Aruga J. 2008. Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly. J Neurosci 28(18):4712-25. [PubMed: 18448648]  [MGI Ref ID J:134970]

Inoue T; Ota M; Mikoshiba K; Aruga J. 2007. Zic2 and Zic3 synergistically control neurulation and segmentation of paraxial mesoderm in mouse embryo. Dev Biol 306(2):669-84. [PubMed: 17490632]  [MGI Ref ID J:122556]

Inoue T; Ota M; Ogawa M; Mikoshiba K; Aruga J. 2007. Zic1 and Zic3 regulate medial forebrain development through expansion of neuronal progenitors. J Neurosci 27(20):5461-73. [PubMed: 17507568]  [MGI Ref ID J:121744]

Johnson DR. 1976. The interfrontal bone and mutant genes in the mouse. J Anat 121(3):507-13. [PubMed: 1018005]  [MGI Ref ID J:5776]

Klootwijk R; Franke B; van Der Zee CE; de Boer RT; Wilms W; Hol FA; Mariman EC. 2000. A deletion encompassing zic3 in bent tail, a mouse model for X-linked neural tube defects Hum Mol Genet 9(11):1615-22. [PubMed: 10861288]  [MGI Ref ID J:63168]

Klootwijk R; Schijvenaars MM; Mariman EC; Franke B. 2004. Further characterization of the genetic defect of the Bent tail mouse, a mouse model for human neural tube defects. Birth Defects Res A Clin Mol Teratol 70(11):880-4. [PubMed: 15526289]  [MGI Ref ID J:95076]

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.
Important Note	This strain is segregating for Zic3Bn.

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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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