Description

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

Former Names B6.C3-Zbtb16Lu/J    (Changed: 31-AUG-11 ) B6.C3-Zfp145Lu/J    (Changed: 15-DEC-04 ) B6.C3-lu/J    (Changed: 15-DEC-04 ) Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Background Strain C57BL/6J Donor Strain C3H/He Generation N37p Generation Definitions

Description
Mice homozygous for the luxoid mutation exhibit preaxial polydactly or oligodactly of the hindfeet, preaxial polydactly of the forefeet, tail kinks, tibial hemimelia and occasionally radial hemimelia. Heterozygotes exhibit preaxial polydactly or hyperphalangy of the hindfeet. An increased number of vertebra, ribs and sternebrae are found in homozygotes and to a lesser extent in heterozygotes (Forsthoefel, 1958). Male mice are infertile with a complete lack of spermatogonia after six weeks (Johnson et al., 1971). By eight months, many seminiferous tubules are agametic, lacking one or more germ cell generations (Buaas et al., 2004). Histological and FACS analysis demonstrate that luxoid homozygotes have progressive germ-cell loss starting as early as eight days (Buaas et al., 2004). This mutant mouse strain may be useful in studies related to male infertility or contraception, limb or skeletal abnormalities, and stem cell research.

Development
The luxoid mutation arose spontaneously in the C3H/He inbred strain at The Jackson Laboratory (Green 1955). The mutation was backcrossed to C57BL/10Gn for 69 generations and then backcrossed for 35+ generations to C57BL/6J before embryos were cryopreserved.

Control Information

	Control
	Untyped from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Zbtb16

014644

C57BL/6-Tg(Cd4-Zbtb16)1797Aben/J

View Strains carrying other alleles of Zbtb16     (1 strain)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Zbtb16^lu/Zbtb16^lu

        B6.C3-Zbtb16^Lu

• endocrine/exocrine gland phenotype
• small testis
  • observed in 8 month old mice; suggested to be due to loss of germ cells   (MGI Ref ID J:89934)
• reproductive system phenotype
• decreased male germ cell number
  • many seminiferous tubules of older mice were agametic, containing only Sertoli cells; other tubules lacked one or more germ cell generations   (MGI Ref ID J:89934)
• • azoospermia
    • observed in 8 month old mice   (MGI Ref ID J:89934)
• small testis
  • observed in 8 month old mice; suggested to be due to loss of germ cells   (MGI Ref ID J:89934)

Zbtb16^lu/Zbtb16^lu

        involves: C57BL/6

• reproductive system phenotype
• seminiferous tubule degeneration
  • dramatic germ cell loss (Sertoli Cell only tubules) even at 3 months of age   (MGI Ref ID J:160477)
  • over 50% of tubules are PCNA-negative at 8 months of age   (MGI Ref ID J:160477)
• endocrine/exocrine gland phenotype
• seminiferous tubule degeneration
  • dramatic germ cell loss (Sertoli Cell only tubules) even at 3 months of age   (MGI Ref ID J:160477)
  • over 50% of tubules are PCNA-negative at 8 months of age   (MGI Ref ID J:160477)

Zbtb16^lu/Zbtb16^lu

        B6.C3-Zbtb16^lu/J

• hematopoietic system phenotype
• decreased NK T cell number
  • NK T cells are reduced by 90-99% in the thymus, spleen and liver in 4 to 8 week old mice; other lymphocyte populations in the thymus, spleen and lymph node are not affected   (MGI Ref ID J:139690)
• immune system phenotype
• decreased NK T cell number
  • NK T cells are reduced by 90-99% in the thymus, spleen and liver in 4 to 8 week old mice; other lymphocyte populations in the thymus, spleen and lymph node are not affected   (MGI Ref ID J:139690)

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

Zbtb16^lu/Zbtb16⁺

        C3H/He

• limbs/digits/tail phenotype
• polyphalangy
  • incomplete penetrance on hind limb only; the first toe is the usually the only one affected, with either an elongated second phalanx or having three phalanges   (MGI Ref ID J:13069)
• skeleton phenotype
• abnormal sternebra morphology
  • increased number of sternebrae   (MGI Ref ID J:13069)
• increased presacral vertebrae number   (MGI Ref ID J:13069)
• increased rib number
  • higher frequency of mice with 14 ribs instead of 13   (MGI Ref ID J:13069)
• polyphalangy
  • incomplete penetrance on hind limb only; the first toe is the usually the only one affected, with either an elongated second phalanx or having three phalanges   (MGI Ref ID J:13069)

Zbtb16^lu/Zbtb16⁺

        B10.C3-Zbtb16^lu

• limbs/digits/tail phenotype
• polydactyly
  • preaxial polydactyly; incomplete penetrance on hind limb only; up to two extra toes are seen with variable degrees of development   (MGI Ref ID J:13069)
• polyphalangy
  • incomplete penetrance on hind limb only; the first toe is the usually the only one affected, with either an elongated second phalanx or having three phalanges   (MGI Ref ID J:13069)
• skeleton phenotype
• abnormal sternebra morphology
  • increased number of sternebrae   (MGI Ref ID J:13069)
• increased presacral vertebrae number   (MGI Ref ID J:13069)
• increased rib number
  • higher frequency of mice with 14 ribs instead of 13   (MGI Ref ID J:13069)
• polyphalangy
  • incomplete penetrance on hind limb only; the first toe is the usually the only one affected, with either an elongated second phalanx or having three phalanges   (MGI Ref ID J:13069)

Zbtb16^lu/Zbtb16^lu

        C3H/He

• limbs/digits/tail phenotype
• abnormal tarsal bone morphology   (MGI Ref ID J:13069)
• bowed fibula
  • curved   (MGI Ref ID J:13069)
• brachyphalangia
  • occasional preaxial reduction; hallux is reduced or absent   (MGI Ref ID J:13069)
• kinked tail   (MGI Ref ID J:13069)
• long fibula   (MGI Ref ID J:13069)
• polydactyly
  • preaxial polydactyly; incomplete penetrance; less frequent than on the C57BL/10 background; often an extra preaxial digit is present; up to two extra toes are seen with variable degrees of development; the second or third digit may be split   (MGI Ref ID J:13069)
• polyphalangy
  • incomplete penetrance; the first toe usually has three phalanges   (MGI Ref ID J:13069)
• short tibia
  • results in the curvature of the fibula and the knee and heel are brought close together   (MGI Ref ID J:13069)
• skeleton phenotype
• abnormal sternebra morphology
  • increased number of sternebrae   (MGI Ref ID J:13069)
• abnormal tarsal bone morphology   (MGI Ref ID J:13069)
• bowed fibula
  • curved   (MGI Ref ID J:13069)
• brachyphalangia
  • occasional preaxial reduction; hallux is reduced or absent   (MGI Ref ID J:13069)
• increased presacral vertebrae number   (MGI Ref ID J:13069)
• increased rib number
  • higher frequency of mice with 14 ribs instead of 13   (MGI Ref ID J:13069)
• long fibula   (MGI Ref ID J:13069)
• polyphalangy
  • incomplete penetrance; the first toe usually has three phalanges   (MGI Ref ID J:13069)
• short tibia
  • results in the curvature of the fibula and the knee and heel are brought close together   (MGI Ref ID J:13069)

Zbtb16^lu/Zbtb16^lu

        B10.C3-Zbtb16^lu

• limbs/digits/tail phenotype
• abnormal tarsal bone morphology   (MGI Ref ID J:13069)
• kinked tail   (MGI Ref ID J:13069)
• long fibula   (MGI Ref ID J:13069)
• polydactyly
  • preaxial polydactyly; incomplete penetrance; often an extra preaxial digit is present; up to two extra toes are seen with variable degrees of development; the second or third digit may be split   (MGI Ref ID J:13069)
• polyphalangy
  • incomplete penetrance; the first toe usually has three phalanges   (MGI Ref ID J:13069)
• short tibia
  • less severe than C3H background; results in increased length of the fibula and the shank and foot are not held in the normal position   (MGI Ref ID J:13069)
• skeleton phenotype
• abnormal sternebra morphology
  • increased number of sternebrae   (MGI Ref ID J:13069)
• abnormal tarsal bone morphology   (MGI Ref ID J:13069)
• increased presacral vertebrae number   (MGI Ref ID J:13069)
• increased rib number
  • higher frequency of mice with 14 ribs instead of 13   (MGI Ref ID J:13069)
• long fibula   (MGI Ref ID J:13069)
• polyphalangy
  • incomplete penetrance; the first toe usually has three phalanges   (MGI Ref ID J:13069)
• short tibia
  • less severe than C3H background; results in increased length of the fibula and the shank and foot are not held in the normal position   (MGI Ref ID J:13069)

Zbtb16^lu/Zbtb16^lu

        Background Not Specified

• reproductive system phenotype
• azoospermia
  • lack of spermatogonia after 6 weeks of age; production of spermatogonia is normal at birth, then a rapid loss of germline cells occurs   (MGI Ref ID J:5206)
• male infertility   (MGI Ref ID J:5206)

View Research Applications

Research Applications

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

Zbtb16^lu related

Developmental Biology Research
Skeletal Defects

Reproductive Biology Research
Developmental Defects Affecting Gonads
      males only
Fertility Defects
      males only

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Zbtb16lu
Allele Name		luxoid
Allele Type		Spontaneous
Common Name(s)		Green's luxoid; Plzflu; lu;
Strain of Origin		C3H/He
Gene Symbol and Name		Zbtb16, zinc finger and BTB domain containing 16
Chromosome		9
Gene Common Name(s)		AI467657; Green's luxoid; Lx; PLZF; ZNF145; Zfp145; expressed sequence AI467657; lu; luxoid; zinc finger protein 145;
Molecular Note		This spontaneous mutation arose in 1950 at the Ohio State University. The molecular mutation responsible for the phenotype is a C-to-T transition mutation in codon 234 that is predicted to convert an arginine residue to a nonsense codon. [MGI Ref ID J:89934]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Buaas FW; Kirsh AL; Sharma M; McLean DJ; Morris JL; Griswold MD; de Rooij DG; Braun RE. 2004. Plzf is required in adult male germ cells for stem cell self-renewal. Nat Genet 36(6):647-52. [PubMed: 15156142]  [MGI Ref ID J:89934]

Burda DJ; Center EM. 1969. Development of luxoid (lu) skeletal defects in vitro. J Embryol Exp Morphol 21(2):347-60. [PubMed: 5822891]  [MGI Ref ID J:5126]

Center EM; Hunter RL; Dodge AH. 1967. Effects of the luxoid gene (lu) on liver esterase isozymes of the mouse. Genetics 55(2):349-58. [PubMed: 6067640]  [MGI Ref ID J:109970]

Johnson DR; Hunt DM. 1971. Hop-sterile, a mutant gene affecting sperm tail development in the mouse. J Embryol Exp Morphol 25(2):223-36. [PubMed: 5088020]  [MGI Ref ID J:5206]

Additional References

Zbtb16^lu related

Ching YH; Wilson LA; Schimenti JC. 2010. An allele separating skeletal patterning and spermatogonial renewal functions of PLZF. BMC Dev Biol 10(1):33. [PubMed: 20338044]  [MGI Ref ID J:160477]

Dagg CP. 1967. Combined action of fluorouracil and two mutant genes on limb development in the mouse. J Exp Zool 164(3):479-89. [PubMed: 6068186]  [MGI Ref ID J:5039]

Forsthoefel PF. 1959. The embryological development of the skeletal effects of the luxoid gene in the mouse, including its interactions with the luxate gene. J Morphol 104:89-141.  [MGI Ref ID J:13095]

Forsthoefel PF. 1958. The skeletal effects of the luxoid gene in the mouse, including its interactions with the luxate gene. J Morphol 102:247-287.  [MGI Ref ID J:13093]

Green MC. 1955. Luxoid, a new hereditary leg and foot abnormality in the house mouse. J Hered 46:91-99.  [MGI Ref ID J:13069]

Kobozieff N; Pomriaskinsky-Kobozieff NA; Gemahling E. 1962. Hemimelie chez la souris. II. Etude morphologique des homozygotes atteints de differentes anomalies du squelette. D. Squelette axial Rec Med Vet 138:671-86.  [MGI Ref ID J:14899]

Savage AK; Constantinides MG; Han J; Picard D; Martin E; Li B; Lantz O; Bendelac A. 2008. The transcription factor PLZF directs the effector program of the NKT cell lineage. Immunity 29(3):391-403. [PubMed: 18703361]  [MGI Ref ID J:139690]

Verykokakis M; Boos MD; Bendelac A; Kee BL. 2010. SAP protein-dependent natural killer T-like cells regulate the development of CD8(+) T cells with innate lymphocyte characteristics. Immunity 33(2):203-15. [PubMed: 20674402]  [MGI Ref ID J:163924]

Weinreich MA; Odumade OA; Jameson SC; Hogquist KA. 2010. T cells expressing the transcription factor PLZF regulate the development of memory-like CD8+ T cells. Nat Immunol 11(8):709-16. [PubMed: 20601952]  [MGI Ref ID J:162317]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.

Purchasing information

Pricing, Supply Level & Notes, Controls

General Supply Notes

• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Untyped from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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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