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Strain Name:

C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

Stock Number:

001533

Availability:

Repository-Cryopreserved

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General Terms and Conditions

Genes & Alleles   Gli3;   Gli3Xt-J;   Mc1r;   Mc1rE-so;   Pde6b;   Pde6brd1;

Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Strain
Additional information on JAX® GEMM® Strains.
Specieslaboratory mouse

Appearance
dark black
Related Genotype: A/A Mc1rE-so/Mc1rE-so +/+

dark black with white belly spot and extra toes
Related Genotype: A/A Mc1rE-so/Mc1rE-so Gli3Xt-J/+

Important Note
This strain is homozygous for Mc1rE-so and Pde6brd1 and segregating for Gli3Xt-J.

Strain Description
Mice heterozygous for the extra toes-J spontaneous mutation (Gli3Xt-J) have varying numbers of extra digits on preaxial side of feet. Homozygous mutant mice die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E9. Homologous to Grieg's cephalopoly-syndactyly, a rare multi-system syndrome in humans. This strain is homozygous for the sombre mutation (Mc1rE-so).

Related Disease (OMIM) Terms

Greig Cephalopolysyndactyly Syndrome; GCPS
Mammalian Phenotype Terms assigned by genotype

Mc1rE-so/Mc1r+

        C3H
  • pigmentation phenotype
  • abnormal skin pigmentation (J:13077)
  • darkened coat color (J:13077)
    • at maturity flanks are flecked with yellow hairs and bellies may appear dark gray
    • appearance is similar to homozygous non-agouti mice
    • yellow perineal hairs are present in the first coat distinguishing heterozygotes from homozygotes by 12 days of age
    • shows epistatic supression of light bellies in mice heterozygous for Aw. white bellied agouti
  • hyperpigmentation (J:13077)
    • skin is dark, ears and nipples are especially obvious
  • skin/coat/nails phenotype
  • abnormal skin pigmentation (J:13077)
  • darkened coat color (J:13077)
    • at maturity flanks are flecked with yellow hairs and bellies may appear dark gray
    • appearance is similar to homozygous non-agouti mice
    • yellow perineal hairs are present in the first coat distinguishing heterozygotes from homozygotes by 12 days of age
    • shows epistatic supression of light bellies in mice heterozygous for Aw. white bellied agouti

Mc1rE-so/Mc1rE-so

        C3H
  • pigmentation phenotype
  • abnormal skin pigmentation (J:13077)
    • all skin surfaces are startlingly black
  • darkened coat color (J:13077)
    • all black except for a few yellow hairs on the perineum
  • hyperpigmentation (J:13077)
  • skin/coat/nails phenotype
  • abnormal skin pigmentation (J:13077)
    • all skin surfaces are startlingly black
  • darkened coat color (J:13077)
    • all black except for a few yellow hairs on the perineum

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

Gli3Xt-J/Gli3+

        involves: C3H * CD-1
  • limbs/digits/tail phenotype
  • abnormal foot plate morphology (J:4086)
    • at day 12 of gestation, footpads are enlarged at the area destined to become digit 1
  • polydactyly (J:38381)
    • display mild preaxial polydactyly in both fore- and hindlimbs

Gli3Xt-J/Gli3+

        involves: 129/Sv * C3H/HeJ * C57BL/6
  • limbs/digits/tail phenotype
  • polyphalangy (J:121609)
    • there is an extra phalange in the first digit
  • skeleton phenotype
  • polyphalangy (J:121609)
    • there is an extra phalange in the first digit

Gli3Xt-J/Gli3Xt-J

        involves: C3H * CD-1
  • craniofacial phenotype
  • abnormal craniofacial development (J:4086)
    • enlarged maxillary arch
    • reduced external nasal process
    • abnormal tooth development (J:38381)
      • occurs in some mice
  • abnormal ear distance/ position (J:4086)
    • misplaced ears
  • abnormal skull morphology (J:38381)
    • external nasal processes are reduced
    • abnormal calvaria morphology (J:38381)
      • skull vault fails to form
    • abnormal maxilla morphology (J:38381)
      • the maxillary region is enlarged
  • cleft palate (J:38381)
    • occurs in some mice
  • skeleton phenotype
  • abnormal long bone morphology (J:38381)
    • increased diameter of humerus (J:38381)
      • slight thickening of the humerus
    • increased diameter of radius (J:38381)
      • slight thickening of the radius
    • increased diameter of ulna (J:38381)
      • slight thickening of the ulna
    • short humerus (J:38381)
      • slight shortening of the humerus
    • short radius (J:38381)
      • slight shortening of the radius
    • short tibia (J:38381)
      • severe truncation of the tibia is observed
    • short ulna (J:38381)
      • slight shortening of the ulna
  • abnormal skull morphology (J:38381)
    • external nasal processes are reduced
    • abnormal calvaria morphology (J:38381)
      • skull vault fails to form
    • abnormal maxilla morphology (J:38381)
      • the maxillary region is enlarged
  • abnormal sternum morphology (J:38381)
    • sternum is unfused
  • abnormal tooth development (J:38381)
    • occurs in some mice
  • abnormal vertebral arch morphology (J:38381)
    • C1 and C2 neural arches are fused
    • neural arches of other cervical vertebrae are expanded and have irregular shapes
  • limbs/digits/tail phenotype
  • abnormal foot plate morphology (J:4086)
    • at E12, mutant embryos show a widening in the preaxial and postaxial areas of the footplates, resulting in a paddle-shaped foot with polydactyly
  • abnormal long bone morphology (J:38381)
    • increased diameter of humerus (J:38381)
      • slight thickening of the humerus
    • increased diameter of radius (J:38381)
      • slight thickening of the radius
    • increased diameter of ulna (J:38381)
      • slight thickening of the ulna
    • short humerus (J:38381)
      • slight shortening of the humerus
    • short radius (J:38381)
      • slight shortening of the radius
    • short tibia (J:38381)
      • severe truncation of the tibia is observed
    • short ulna (J:38381)
      • slight shortening of the ulna
  • polydactyly (J:38381)
    • forelimb exhibits severe polydactyly (7-8 digits) and hindlimb exhibits milder polydactyly (6 digits)
    • present on all feet
  • syndactyly (J:4086)
    • present on all feet
  • lethality-prenatal/perinatal
  • perinatal lethality (J:4086)
    • animals that survive to birth die within 2 days after birth
  • prenatal lethality (J:4086)
    • many mutants die embryonically with a wide reange of defects
  • nervous system phenotype
  • abnormal brain morphology (J:4086)
    • gross malformations of the brain
    • exencephaly (J:4086)
      • midbrain exencephaly
  • incomplete cephalic closure (J:4086)
    • neural tube closure is largely normal, although an opening around the midbrain region is seen
  • hearing/vestibular/ear phenotype
  • abnormal ear distance/ position (J:4086)
    • misplaced ears
  • homeostasis/metabolism phenotype
  • edema (J:4086)
  • skin/coat/nails phenotype
  • abnormal coat/ hair morphology (J:4086)
    • anomalous number and patterns of supra-orbital hair (eyelashes)
  • touch/vibrissae phenotype
  • abnormal vibrissae morphology (J:4086)
    • anomalous number and patterns of mystacial hair (vibrissae)
  • vision/eye phenotype
  • abnormal eye development (J:4086)
    • poorly developed eyes
  • digestive/alimentary phenotype
  • cleft palate (J:38381)
    • occurs in some mice

Gli3Xt-J/Gli3Xt-J

        involves: 129/Sv * C3H/HeJ * C57BL/6J
  • limbs/digits/tail phenotype
  • polydactyly (J:121554)
    • similar to the phenotype seen in Gli3Xt-J Gas1tm2Fan double homozygotes

Gli3Xt-J/Gli3Xt-J

        involves: 129/Sv * C3H/HeJ * C57BL/6
  • limbs/digits/tail phenotype
  • abnormal digit morphology (J:121609)
    • digits have lost their identity with some digits consisting of three phalanges that are usually undivided and longer than those in Gli3tm2Blnw homozygotes
    • abnormal phalanx morphology (J:121609)
      • phalanges in some digits are undivided and longer than those in Gli3tm2Blnw homozygotes
      • rarely extra phalanges element branch from the metatarsals
      • however, ossification occurs at most proximal and distal phalanges
    • polydactyly (J:121609)
      • at E16.5, some mice have 6 to 8 digits that lacked identity
  • absent tibia (J:121609)
    • at E16.5, in some mice
  • skeleton phenotype
  • abnormal phalanx morphology (J:121609)
    • phalanges in some digits are undivided and longer than those in Gli3tm2Blnw homozygotes
    • rarely extra phalanges element branch from the metatarsals
    • however, ossification occurs at most proximal and distal phalanges
  • absent tibia (J:121609)
    • at E16.5, in some mice

Gene & Allele Details

Allele Symbol Gli3Xt-J
Allele Name extra toes Jackson
Common Name(s) Gli3-; Gli3XtJ; XtJ; XtJ; extra-toes ; xt;
Strain of OriginC3H/HeJ
Gene Symbol and Name Gli3, GLI-Kruppel family member GLI3
Chromosome 13
Gene Common Name(s) ACLS; AI854843; AU023367; Bph; GCPS; PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV; Pdn; Xt; add; anterior digit pattern deformity; brachyphalangy; expressed sequence AI854843; expressed sequence AU023367; extra toes; polydactyly Nagoya;
General Note Genbank ID for this allele: AF418601
Molecular Note Genomic sequencing and PCR analysis identified the mutation as a 51.5 kb deletion. The deleted region contains all Gli3 coding sequences 3' to exon 9, which includes sequences encoding some, but not all, of the zinc finger domains. This deletion resultsin the expression of an abnormal transcript that fuses Gli3 sequences to an exon belonging to an apparent LTR/MaLR repetitive element. However, this transcript lacks the sequences required for normal GLI3 activity. [J:4086] [J:48982] [J:76587]
 
Allele Symbol Mc1rE-so
Allele Name sombre
Common Name(s) Eso;
Strain of OriginC3H
Gene Symbol and Name Mc1r, melanocortin 1 receptor
Chromosome 8
Gene Common Name(s) MGC14337; MSH-R; Mshra; SHEP2; Tob; e; extension recessive yellow; extension, recessive yellow; melanocyte hormone receptor alpha; tobacco darkening;
Molecular Note A T-to-C mutation in codon 96 is predicted to result in a leucine to proline alteration at this position. [J:4636]
 
Allele Symbol Pde6brd1
Allele Name retinal degeneration 1
Common Name(s) rd; rd-1; rd1; rodless retina;

Control Information

  Control
   Wild-type from the colony Homozygous for MclrE-so and wild-type for Gli3Xt-J
   000658 C3HeB/FeJ
 
  Considerations for Choosing Controls

Colony Maintenance

Breeding & HusbandryGli3Xt-J/+ may have a white belly spot.

Related Strains

Strains carrying   Gli3Xt-J allele
000026   B6.C3-Gli3Xt-J/J
001434   C3HeB/FeJ x STX/Le-Mc1rE-so Gli3Xt-J Tw/J
View Strains carrying   Gli3Xt-J     (2 strains)

Strains carrying   Mc1rE-so allele
001434   C3HeB/FeJ x STX/Le-Mc1rE-so Gli3Xt-J Tw/J
View Strains carrying   Mc1rE-so     (1 strain)

Strains carrying   Pde6brd1 allele
004202   B6.C3 Pde6brd1 Hps4le/+ +-Lmx1adr-8J/J
000002   B6.C3-Pde6brd1 Hps4le/J
001022   B6C3FeF1/J a/a
000652   BDP/J
000653   BUB/BnJ
002439   C3.129P2(B6)-B2mtm1Unc/J
005494   C3.129S1(B6)-Grm1rcw/J
000480   C3.MRL-Faslpr/J
001957   C3A Pde6brd1.O20/A-Prph2Rd2/J
005973   C3Bir.129P2(B6)-Il10C3Bir/LtJ
004326   C3Bir.129P2(B6)-Il10tm1Cgn/Lt
003968   C3Bir.129P2(B6)-Il10tm1Cgn/LtJ
001906   C3Ga.Cg-Catb/J
001904   C3H-Atcayji-hes/J
000659   C3H/HeJ
000784   C3H/HeJ-Faslgld/J
000509   C3H/HeJ-Lystbg-2J/J
002433   C3H/HeJ-Spnb4qv-lnd2J/J
005972   C3H/HeJBirLtJ
001824   C3H/HeJSxJ
000635   C3H/HeOuJ
000474   C3H/HeSn
001431   C3H/HeSn-ocd/J
000661   C3H/HeSnJ
002235   C3H/HeSnJ-Ctnna2cdf/J
002333   C3H/HeSnJ-gri/J
006435   C3HeB.SW-Soaa/MonJ
000658   C3HeB/FeJ
001576   C3HeB/FeJ-Atp7btx-J/J
002588   C3HeB/FeJ-Eya1bor/J
001886   C3HeB/FeJLe a/a-gnd/J
001908   C3HfB/BiJ
001502   C3Sn.B6-Epha4rb/J
001547   C3Sn.Cg-Cm/J
000656   CBA/J
000813   CBA/J-Atp7aMo-pew/J
000660   DA/HuSnJ
000023   FL/1ReJ
000025   FL/4ReJ
003078   FVB-Tg(WapIgf1)39Dlr/J
003024   FVB.129P2(B6)-Fmr1tm1Cgr/J
002539   FVB.129P2-Abcb4tm1Bor/J
002935   FVB.129S2(B6)-Ccnd1tm1Wbg/J
002953   FVB.Cg-Tg(MMTVTGFA)254Rjc/J
003170   FVB.Cg-Tg(Myh6-tTA)6Smbf/J
003257   FVB/N-Tg(GFAPGFP)14Mes/J
002374   FVB/N-Tg(MMTV-PyVT)634Mul/J
002856   FVB/N-Tg(TIE2-lacZ)182Sato/J
002384   FVB/N-Tg(UcpDta)1Kz/J
001800   FVB/NJ
003487   FVB/NJ-Tg(XGFAP-lacZ)3Mes/J
001491   FVB/NMob
000734   MOLD/RkJ
000550   MOLF/EiJ
002423   NON/ShiLtJ
000679   P/J
000680   PL/J
100299   PLSJLF1/J
000269   SB/LeJ
005651   SJL.AK-Thy1a/TseJ
000686   SJL/J
000688   ST/bJ
004808   STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
002648   STOCK a/a Cln6nclf/J
000279   STOCK gr +/+ Ap3d1mh/J
005965   STOCK Tg(Pomc1-cre)16Lowl/J
004770   SW.B6-Soab/J
002023   SWR.M-Emv21 Emv22/J
000689   SWR/J
000939   SWR/J-Clcn1adr-mto/J
000692   WB/ReJ KitW/J
100410   WBB6F1/J-KitW/KitW-v/J
000693   WC/ReJ KitlSl/J
100401   WCB6F1/J KitlSl KitlSl-d
View Strains carrying   Pde6brd1     (74 strains)

Strains carrying other alleles of Mc1r
003625   B6.C-H2-Ab1bm12/KhEg-Mc1re-J/J
000060   C57BL/6J-Mc1re/J
001000   RBD/DnJ
000726   RBF/DnJ
000807   RBJ/DnJ
View Strains carrying other alleles of Mc1r     (5 strains)

View Strains carrying other alleles of Pde6b     (8 strains)

Research Applications

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

Gli3Xt-J related

Developmental Biology Research
Neural Tube Defects
Skeletal Defects

Mouse/Human Gene Homologs
Greig cephalopolysyndactyly syndrome

Neurobiology Research
Neural Tube Defects
Vestibular and Hearing Defects

Sensorineural Research
Cataracts (diffuse)
Eye Defects
Vestibular and Hearing Defects

Mc1rE-so related

Dermatology Research
Color and White Spotting Defects (red hair color)

Pde6brd1 related

Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive

Sensorineural Research
Retinal Degeneration

References

Additional References

Price and Supply Information

Strain Name: C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J
Stock Number: 001533

Price Details

IMPORTANT NOTE: Prices are based on shipping destination. To view prices, select your shipping destination.

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to the 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; Email: jaxservices@jax.org.
This strain is included in the Mouse Mutant Resource collection.
Genomic DNA is available for this strain from the Mouse DNA Resource.

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Control InformationView Control Information in Strain Details.

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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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