Strain Name:

C.129S4-Tfap2atm1Jae/J

Stock Number:

002794

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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 C.129S4-Tcfap2atm1Jae/J    (Changed: 31-OCT-11 )
Type Congenic; Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain BALB/c
Donor Strain 129S4 via J1 ES cell line
 
Donating InvestigatorDr. Rudolf Jaenisch,   Whitehead Institute (MIT)

Description
Mice homozygous for the Tcfap2atm1Jae mutation die around embryonic day 9.0-9.5 due to failure of cranial closure. These embryos also show multiple severe developmental defects of the face, skull, sensory organs, and cranial ganglia. There is increased apoptosis in the midbrain of day 9 embryos, coinciding with failure of cranial closure.

Control Information

  Control
   Wild-type from the colony
   000651 BALB/cJ
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Tfap2a
023405   STOCK Tfap2atm1.1Hsv/J
023406   STOCK Tfap2atm2Will/J
View Strains carrying other alleles of Tfap2a     (2 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Branchiooculofacial Syndrome; BOFS   (TFAP2A)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

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

Tfap2atm1Jae/Tfap2a+

        involves: 129P/Ola * 129S4/SvJae
  • behavior/neurological phenotype
  • pup cannibalization
    • exencephalic heterozygous pups are cannibalized by their mothers   (MGI Ref ID J:76797)
  • craniofacial phenotype
  • abnormal cranium morphology
    • up to 14% of heterozygotes exhibit a reduction in rostrocaudal dimensions of the skull   (MGI Ref ID J:76797)
    • abnormal neurocranium morphology
      • up to 14% of heterozygotes show abnormal formation of the bones of the cranial vault (either absent or hypoplastic)   (MGI Ref ID J:76797)
      • absent interparietal bone
        • in affected heterozygotes, the interparietal bone is absent   (MGI Ref ID J:76797)
      • absent parietal bone
        • in affected heterozygotes, the parietal bone is absent   (MGI Ref ID J:76797)
      • small frontal bone
        • in affected heterozygotes, only a small portion of the frontal bone is present   (MGI Ref ID J:76797)
    • absent nasal bone
      • in the most severe cases, the nasal bone and cartilage were malformed or absent   (MGI Ref ID J:76797)
    • short mandible   (MGI Ref ID J:76797)
    • short maxilla   (MGI Ref ID J:76797)
    • small zygomatic bone
      • in affected heterozygotes, the zygomatic bone is smaller relative to wild-type   (MGI Ref ID J:76797)
  • abnormal middle ear ossicle morphology
    • the cartilage and the ossicles of the middle ear are rotated but otherwise normal   (MGI Ref ID J:76797)
  • hearing/vestibular/ear phenotype
  • abnormal middle ear ossicle morphology
    • the cartilage and the ossicles of the middle ear are rotated but otherwise normal   (MGI Ref ID J:76797)
  • skeleton phenotype
  • *normal* skeleton phenotype
    • heterozygotes show no defects in the axial skeleton   (MGI Ref ID J:76797)
    • abnormal cranium morphology
      • up to 14% of heterozygotes exhibit a reduction in rostrocaudal dimensions of the skull   (MGI Ref ID J:76797)
      • abnormal neurocranium morphology
        • up to 14% of heterozygotes show abnormal formation of the bones of the cranial vault (either absent or hypoplastic)   (MGI Ref ID J:76797)
        • absent interparietal bone
          • in affected heterozygotes, the interparietal bone is absent   (MGI Ref ID J:76797)
        • absent parietal bone
          • in affected heterozygotes, the parietal bone is absent   (MGI Ref ID J:76797)
        • small frontal bone
          • in affected heterozygotes, only a small portion of the frontal bone is present   (MGI Ref ID J:76797)
      • absent nasal bone
        • in the most severe cases, the nasal bone and cartilage were malformed or absent   (MGI Ref ID J:76797)
      • short mandible   (MGI Ref ID J:76797)
      • short maxilla   (MGI Ref ID J:76797)
      • small zygomatic bone
        • in affected heterozygotes, the zygomatic bone is smaller relative to wild-type   (MGI Ref ID J:76797)
    • abnormal middle ear ossicle morphology
      • the cartilage and the ossicles of the middle ear are rotated but otherwise normal   (MGI Ref ID J:76797)
  • nervous system phenotype
  • exencephaly
    • a subset of heterozygotes displays a midbrain exencephaly after the mutation is crossed for one generation into 129/Ola   (MGI Ref ID J:76797)
    • up to 14% of heterozygotes display a failure of the cranial neural folds to close   (MGI Ref ID J:76797)
    • at E9.5, the neural tube defects are variable, ranging from pure midbrain exencephaly to a forebrain/midbrain exencephaly   (MGI Ref ID J:76797)
    • notably, in heterozygotes, exencephaly is not associated with increased apoptosis or hypoplastic cranial ganglia   (MGI Ref ID J:76797)
  • open neural tube
    • in the most severe cases, heterozygotes display an open neural tube from the frontonasal region to the otic vesicle, with proliferating neural tissue covering the eyes   (MGI Ref ID J:76797)
  • embryogenesis phenotype
  • open neural tube
    • in the most severe cases, heterozygotes display an open neural tube from the frontonasal region to the otic vesicle, with proliferating neural tissue covering the eyes   (MGI Ref ID J:76797)

Tfap2atm1Jae/Tfap2atm1Jae

        either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * BALB/c)
  • mortality/aging
  • complete perinatal lethality
    • homozygous null mice die perinatally   (MGI Ref ID J:33032)
  • cellular phenotype
  • abnormal apoptosis
    • failure of cranial closure at 9 dpc coincides with increased apoptosis in the midbrain, anterior hindbrain and proximal mesenchyme of the first branchial arch   (MGI Ref ID J:33032)
    • at 9.5 dpc, cell death is still elevated in the trigeminal ganglia primordia and proximal first-branchial-arch mesenchyme, but not in brain neuroepithelia   (MGI Ref ID J:33032)
  • craniofacial phenotype
  • abnormal cranium morphology
    • homozygotes display severe dysmorphogenesis of the skull and a fully penetrant cranio-abdominoschisis   (MGI Ref ID J:33032)
    • at 16.5 dpc, all major skull bones of non-somitic origin are morphologically abnormal or severely reduced   (MGI Ref ID J:33032)
    • acrania
      • at 16.5 dpc, the head skeleton is acranic (lack of skull vault)   (MGI Ref ID J:33032)
    • cranioschisis
      • the two brain hemispheres develop open with the germinal layer facing outward (cranioschisis)   (MGI Ref ID J:33032)
  • absent outer ear
    • homozygous null mice lack external ears   (MGI Ref ID J:33032)
  • midline facial cleft
    • at 9.5-11.5 dpc, medial nasal and mandibular prominences fail to undergo normal midline fusions, resulting in full midline facial clefting   (MGI Ref ID J:33032)
  • hearing/vestibular/ear phenotype
  • absent outer ear
    • homozygous null mice lack external ears   (MGI Ref ID J:33032)
  • limbs/digits/tail phenotype
  • absent radius
    • homozygotes display various limb defects, such as lack of a radius bone; however, these defects are not fully penetrant   (MGI Ref ID J:33032)
  • skeleton phenotype
  • abnormal axial skeleton morphology
    • at 16.5 dpc, the axial skeleton is contorted and smaller relative to wild-type   (MGI Ref ID J:33032)
    • abnormal cranium morphology
      • homozygotes display severe dysmorphogenesis of the skull and a fully penetrant cranio-abdominoschisis   (MGI Ref ID J:33032)
      • at 16.5 dpc, all major skull bones of non-somitic origin are morphologically abnormal or severely reduced   (MGI Ref ID J:33032)
      • acrania
        • at 16.5 dpc, the head skeleton is acranic (lack of skull vault)   (MGI Ref ID J:33032)
      • cranioschisis
        • the two brain hemispheres develop open with the germinal layer facing outward (cranioschisis)   (MGI Ref ID J:33032)
    • abnormal thoracic cage morphology
      • open rib cage   (MGI Ref ID J:33032)
      • absent sternum
        • at 16.5 dpc, homozygotes display no sternum medially   (MGI Ref ID J:33032)
      • splayed ribs
        • the ribs of homozygous null mutants splay outwards but are normal in number   (MGI Ref ID J:33032)
    • scoliosis
      • at 16.5 dpc, homozygotes display a scoliotic spine   (MGI Ref ID J:33032)
  • absent radius
    • homozygotes display various limb defects, such as lack of a radius bone; however, these defects are not fully penetrant   (MGI Ref ID J:33032)
  • vision/eye phenotype
  • abnormal lens vesicle development
    • the optic cup is displaced with dysmorphic neural and pigmented retinal layers of the eye developing medially   (MGI Ref ID J:33032)
    • the contact between the optic cup and head ectoderm is lost, and lens induction is aborted   (MGI Ref ID J:33032)
  • anophthalmia
    • homozygous null mice lack eyes   (MGI Ref ID J:33032)
  • nervous system phenotype
  • abnormal cranial ganglia morphology
    • at 10.5 dpc, the cranial ganglia are severely underdeveloped (trigeminal, geniculate, vestibulocochlear and nodose) or absent (petrosal)   (MGI Ref ID J:33032)
    • small trigeminal ganglion
      • the cranial ganglia, especially the trigeminal ganglia, display severe hypoplasia; dorsal root ganglia are less affected   (MGI Ref ID J:33032)
  • abnormal forebrain morphology
    • expansion of the everted forebrain between 9.5-11.5 dpc leads to progressive lateral displacement of the facial primordia   (MGI Ref ID J:33032)
  • exencephaly
    • at 9-9.5 dpc, the cranial folds fail to join dorsomedially for closure, and the entire brain plate remains open thereafter   (MGI Ref ID J:33032)
  • incomplete rostral neuropore closure
    • the cranial portion of the neural tube fails to close   (MGI Ref ID J:33032)
    • at 9-9.5 dpc, the cranial folds fail to join dorsomedially for closure, and the entire brain plate remains open thereafter   (MGI Ref ID J:33032)
  • growth/size/body phenotype
  • abnormal ventral body wall morphology
    • the ventral body wall fails to close medially, allowing extrusion of thoracic and abdominal organs through the open rib cage   (MGI Ref ID J:33032)
  • absent outer ear
    • homozygous null mice lack external ears   (MGI Ref ID J:33032)
  • midline facial cleft
    • at 9.5-11.5 dpc, medial nasal and mandibular prominences fail to undergo normal midline fusions, resulting in full midline facial clefting   (MGI Ref ID J:33032)
  • embryogenesis phenotype
  • abnormal neural fold elevation formation
    • by 8.5-9 dpc, mutant embryos show a delayed elevation of the cranial neural folds and a more widely open brain plate   (MGI Ref ID J:33032)
  • incomplete rostral neuropore closure
    • the cranial portion of the neural tube fails to close   (MGI Ref ID J:33032)
    • at 9-9.5 dpc, the cranial folds fail to join dorsomedially for closure, and the entire brain plate remains open thereafter   (MGI Ref ID J:33032)
View Research Applications

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

Tfap2atm1Jae related

Cancer Research
Genes Regulating Growth and Proliferation

Developmental Biology Research
Neurodevelopmental Defects

Neurobiology Research
Neurodevelopmental Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Tfap2atm1Jae
Allele Name targeted mutation 1, Rudolf Jaenisch
Allele Type Targeted (Null/Knockout)
Common Name(s) AP-2 -;
Mutation Made ByDr. Rudolf Jaenisch,   Whitehead Institute (MIT)
Strain of Origin129S4/SvJae
ES Cell Line NameJ1
ES Cell Line Strain129S4/SvJae
Gene Symbol and Name Tfap2a, transcription factor AP-2, alpha
Chromosome 13
Gene Common Name(s) AP-2; AP-2 alpha; AP-2 transcription factor; AP-2alpha; AP2TF; AP2alpha; Ap-2 (a); Ap2; Ap2tf; BOFS; TFAP2; Tcfap2a;
Molecular Note A neomycin resistance cassette replaced a genomic fragment containing exon 5, which encodes part of the DNA binding domain of the protein. [MGI Ref ID J:33032]

Genotyping

Genotyping Information

Genotyping Protocols

Generic Neo Melt Curve Analysis, Melt Curve Analysis


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Schorle H; Meier P; Buchert M; Jaenisch R; Mitchell PJ. 1996. Transcription factor AP-2 essential for cranial closure and craniofacial development. Nature 381(6579):235-8. [PubMed: 8622765]  [MGI Ref ID J:33032]

Additional References

Tfap2atm1Jae related

Kohlbecker A; Lee AE; Schorle H. 2002. Exencephaly in a subset of animals heterozygous for AP-2alpha mutation. Teratology 65(5):213-8. [PubMed: 11967920]  [MGI Ref ID J:76797]

Kramer PR; Guerrero G; Krishnamurthy R; Mitchell PJ; Wray S. 2000. Ectopic expression of luteinizing hormone-releasing hormone and peripherin in the respiratory epithelium of mice lacking transcription factor AP-2alpha Mech Dev 94(1-2):79-94. [PubMed: 10842061]  [MGI Ref ID J:63183]

Maytin EV; Lin JC; Krishnamurthy R; Batchvarova N; Ron D; Mitchell PJ; Habener JF. 1999. Keratin 10 gene expression during differentiation of mouse epidermis requires transcription factors C/EBP and AP-2. Dev Biol 216(1):164-81. [PubMed: 10588870]  [MGI Ref ID J:58864]

Talbot D; Loring J; Schorle H; Lorgin J [corrected to Loring J]. 1999. Spatiotemporal expression pattern of keratins in skin of AP-2alpha-deficient mice [published erratum appears in J Invest Dermatol 2000 Mar;114(3):609] J Invest Dermatol 113(5):816-20. [PubMed: 10571739]  [MGI Ref ID J:58477]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3300.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4290.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   Wild-type from the colony
   000651 BALB/cJ
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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