Description

Strain Information

Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation N1

Description
Mice heterozygous for the twirler mutation (Tw) display head-shaking and circling behavior but are not deaf. There are morphological abnormalities of the inner ear which consist of irregularities in the outline of the semicircular canals, sometimes amounting to branching, and reduction or absence of otoliths. Moderate astrocytosis in the vestibular nuclei and cerebellar white matter has been reported. Homozygotes have cleft lip and palate or cleft palate only. They die within 24 hours after birth. Viability and fertility are normal except that adults tend to become obese and may then become sterile. Penetrance is incomplete. This strain is also carrying the sombre (Mc1r^E-so) and extra toes-Jackson (Gli3^St-J) mutations. Extra toes-J heterozygotes have varying numbers of extra digits on preaxial side of feet. Homozygotes die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E9.

Related Strains

Strains carrying   Gli3^Xt-J allele

000026	B6.C3-Gli3Xt-J/J
001533	C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J

View Strains carrying   Gli3^Xt-J     (2 strains)

Strains carrying   Mc1r^E-so allele

001533

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

View Strains carrying   Mc1r^E-so     (1 strain)

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)

Phenotype

Phenotype Information

View Research Applications

Research Applications

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

Gli3^Xt-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

Mc1r^E-so related

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

Tw related

Developmental Biology Research
Craniofacial and Palate Defects (cleft palate and cleft lip)
Neurodevelopmental Defects

Neurobiology Research
Neurodevelopmental Defects
Vestibular and Hearing Defects

Sensorineural Research
Vestibular and Hearing Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Gli3Xt-J
Allele Name		extra toes Jackson
Allele Type		Spontaneous
Common Name(s)		Gli3-; Gli3XtJ; XtJ; XtJ; extra-toes ; xt;
Strain of Origin		C3H/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. [MGI Ref ID J:4086] [MGI Ref ID J:48982] [MGI Ref ID J:76587]
Allele Symbol		Mc1rE-so
Allele Name		sombre
Allele Type		Spontaneous
Common Name(s)		Eso;
Strain of Origin		C3H
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. [MGI Ref ID J:4636]
Allele Symbol		Tw
Allele Name		twirler
Allele Type		Spontaneous
Strain of Origin		STOCK PCS

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

Ting CN; Kohrman D; Burgess DL; Boyle A; Altschuler RA; Gholizadeh G; Samuelson LC; Jang W; Meisler MH. 1994. Insertional mutation on mouse chromosome 18 with vestibular and craniofacial abnormalities. Genetics 136(1):247-54. [PubMed: 7511123]  [MGI Ref ID J:16317]

Gli3^Xt-J related

Ahn S; Joyner AL. 2004. Dynamic changes in the response of cells to positive hedgehog signaling during mouse limb patterning. Cell 118(4):505-16. [PubMed: 15315762]  [MGI Ref ID J:92507]

Alt B; Elsalini OA; Schrumpf P; Haufs N; Lawson ND; Schwabe GC; Mundlos S; Gruters A; Krude H; Rohr KB. 2006. Arteries define the position of the thyroid gland during its developmental relocalisation. Development 133(19):3797-804. [PubMed: 16968815]  [MGI Ref ID J:119563]

Aruga J; Mizugishi K; Koseki H; Imai K; Balling R; Noda T; Mikoshiba K. 1999. Zic1 regulates the patterning of vertebral arches in cooperation with Gli3. Mech Dev 89(1-2):141-50. [PubMed: 10559489]  [MGI Ref ID J:58623]

Bai CB; Joyner AL. 2001. Gli1 can rescue the in vivo function of Gli2. Development 128(24):5161-72. [PubMed: 11748151]  [MGI Ref ID J:73074]

Balmer CW; LaMantia AS. 2004. Loss of Gli3 and Shh function disrupts olfactory axon trajectories. J Comp Neurol 472(3):292-307. [PubMed: 15065125]  [MGI Ref ID J:109287]

Barna M; Pandolfi PP; Niswander L. 2005. Gli3 and Plzf cooperate in proximal limb patterning at early stages of limb development. Nature 436(7048):277-81. [PubMed: 16015334]  [MGI Ref ID J:99990]

Blaess S; Corrales JD; Joyner AL. 2006. Sonic hedgehog regulates Gli activator and repressor functions with spatial and temporal precision in the mid/hindbrain region. Development 133(9):1799-809. [PubMed: 16571630]  [MGI Ref ID J:108509]

Bok J; Dolson DK; Hill P; Ruther U; Epstein DJ; Wu DK. 2007. Opposing gradients of Gli repressor and activators mediate Shh signaling along the dorsoventral axis of the inner ear. Development 134(9):1713-22. [PubMed: 17395647]  [MGI Ref ID J:121232]

Buscher D; Grotewold L; Ruther U. 1998. The XtJ allele generates a Gli3 fusion transcript. Mamm Genome 9(8):676-8. [PubMed: 9680393]  [MGI Ref ID J:48982]

Buttitta L; Mo R; Hui CC; Fan CM. 2003. Interplays of Gli2 and Gli3 and their requirement in mediating Shh-dependent sclerotome induction. Development 130(25):6233-43. [PubMed: 14602680]  [MGI Ref ID J:87223]

Chen Y; Knezevic V; Ervin V; Hutson R; Ward Y; Mackem S. 2004. Direct interaction with Hoxd proteins reverses Gli3-repressor function to promote digit formation downstream of Shh. Development 131(10):2339-47. [PubMed: 15102708]  [MGI Ref ID J:98432]

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Dakubo GD; Mazerolle C; Furimsky M; Yu C; St-Jacques B; McMahon AP; Wallace VA. 2008. Indian hedgehog signaling from endothelial cells is required for sclera and retinal pigment epithelium development in the mouse eye. Dev Biol 320(1):242-55. [PubMed: 18582859]  [MGI Ref ID J:139168]

Dickie MM. 1967. Presumed recurrences of mutations Mouse News Lett 36:60.  [MGI Ref ID J:78286]

Dunn NR; Winnier GE; Hargett LK; Schrick JJ; Fogo AB; Hogan BL. 1997. Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx4. Dev Biol 188(2):235-47. [PubMed: 9268572]  [MGI Ref ID J:42445]

Eggenschwiler JT; Bulgakov OV; Qin J; Li T; Anderson KV. 2006. Mouse Rab23 regulates Hedgehog signaling from Smoothened to Gli proteins. Dev Biol 290(1):1-12. [PubMed: 16364285]  [MGI Ref ID J:104803]

Ernest S; Christensen B; Gilfix BM; Mamer OA; Hosack A; Rodier M; Colmenares C; McGrath J; Bale A; Balling R; Sankoff D; Rosenblatt DS; Nadeau JH. 2002. Genetic and molecular control of folate-homocysteine metabolism in mutant mice. Mamm Genome 13(5):259-67. [PubMed: 12016514]  [MGI Ref ID J:76559]

Friedrichs M; Larralde O; Skutella T; Theil T. 2008. Lamination of the cerebral cortex is disturbed in Gli3 mutant mice. Dev Biol 318(1):203-14. [PubMed: 18448089]  [MGI Ref ID J:136720]

Furimsky M; Wallace VA. 2006. Complementary Gli activity mediates early patterning of the mouse visual system. Dev Dyn 235(3):594-605. [PubMed: 16342201]  [MGI Ref ID J:106158]

Grindley JC; Bellusci S; Perkins D; Hogan BL. 1997. Evidence for the involvement of the Gli gene family in embryonic mouse lung development. Dev Biol 188(2):337-48. [PubMed: 9268579]  [MGI Ref ID J:42454]

Grove EA; Tole S. 1999. Patterning events and specification signals in the developing hippocampus. Cereb Cortex 9(6):551-61. [PubMed: 10498273]  [MGI Ref ID J:102085]

Grove EA; Tole S; Limon J; Yip L; Ragsdale CW. 1998. The hem of the embryonic cerebral cortex is defined by the expression of multiple Wnt genes and is compromised in Gli3-deficient mice. Development 125(12):2315-25. [PubMed: 9584130]  [MGI Ref ID J:48569]

Gutin G; Fernandes M; Palazzolo L; Paek H; Yu K; Ornitz DM; McConnell SK; Hebert JM. 2006. FGF signalling generates ventral telencephalic cells independently of SHH. Development 133(15):2937-46. [PubMed: 16818446]  [MGI Ref ID J:119019]

Hager-Theodorides AL; Dessens JT; Outram SV; Crompton T. 2005. The transcription factor Gli3 regulates differentiation of fetal CD4- CD8- double-negative thymocytes. Blood 106(4):1296-304. [PubMed: 15855276]  [MGI Ref ID J:117284]

Hanashima C; Fernandes M; Hebert JM; Fishell G. 2007. The role of Foxg1 and dorsal midline signaling in the generation of Cajal-Retzius subtypes. J Neurosci 27(41):11103-11. [PubMed: 17928452]  [MGI Ref ID J:125693]

Haraguchi R; Motoyama J; Sasaki H; Satoh Y; Miyagawa S; Nakagata N; Moon A; Yamada G. 2007. Molecular analysis of coordinated bladder and urogenital organ formation by Hedgehog signaling. Development 134(3):525-33. [PubMed: 17202190]  [MGI Ref ID J:119913]

Hardcastle Z; Mo R; Hui CC; Sharpe PT. 1998. The Shh signalling pathway in tooth development: defects in Gli2 and Gli3 mutants. Development 125(15):2803-11. [PubMed: 9655803]  [MGI Ref ID J:49252]

Hatsell SJ; Cowin P. 2006. Gli3-mediated repression of Hedgehog targets is required for normal mammary development. Development 133(18):3661-70. [PubMed: 16914490]  [MGI Ref ID J:112460]

Haycraft CJ; Banizs B; Aydin-Son Y; Zhang Q; Michaud EJ; Yoder BK. 2005. Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function. PLoS Genet 1(4):e53. [PubMed: 16254602]  [MGI Ref ID J:115756]

Hopyan S; Nadesan P; Yu C; Wunder J; Alman BA. 2005. Dysregulation of hedgehog signalling predisposes to synovial chondromatosis. J Pathol 206(2):143-50. [PubMed: 15834844]  [MGI Ref ID J:98387]

Huangfu D; Anderson KV. 2005. Cilia and Hedgehog responsiveness in the mouse. Proc Natl Acad Sci U S A 102(32):11325-30. [PubMed: 16061793]  [MGI Ref ID J:100466]

Huangfu D; Liu A; Rakeman AS; Murcia NS; Niswander L; Anderson KV. 2003. Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature 426(6962):83-7. [PubMed: 14603322]  [MGI Ref ID J:86437]

Hui CC; Joyner AL. 1993. A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. Nat Genet 3(3):241-6. [PubMed: 8387379]  [MGI Ref ID J:4086]

Kawasaki T; Ito K; Hirata T. 2006. Netrin 1 regulates ventral tangential migration of guidepost neurons in the lateral olfactory tract. Development 133(5):845-53. [PubMed: 16439477]  [MGI Ref ID J:106022]

Kim JH; Huang Z; Mo R. 2005. Gli3 null mice display glandular overgrowth of the developing stomach. Dev Dyn 234(4):984-91. [PubMed: 16247775]  [MGI Ref ID J:102853]

Kim JW; Lemke G. 2006. Hedgehog-regulated localization of Vax2 controls eye development. Genes Dev 20(20):2833-47. [PubMed: 17043310]  [MGI Ref ID J:113403]

Kim PC; Mo R; Hui Cc C. 2001. Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway. J Pediatr Surg 36(2):381-4. [PubMed: 11172440]  [MGI Ref ID J:113186]

Kimmel SG; Mo R; Hui CC; Kim PC. 2000. New mouse models of congenital anorectal malformations J Pediatr Surg 35(2):227-31. [PubMed: 10693670]  [MGI Ref ID J:60446]

Koziel L; Wuelling M; Schneider S; Vortkamp A. 2005. Gli3 acts as a repressor downstream of Ihh in regulating two distinct steps of chondrocyte differentiation. Development 132(23):5249-60. [PubMed: 16284117]  [MGI Ref ID J:102948]

Kuijper S; Beverdam A; Kroon C; Brouwer A; Candille S; Barsh G; Meijlink F. 2005. Genetics of shoulder girdle formation: roles of Tbx15 and aristaless-like genes. Development 132(7):1601-10. [PubMed: 15728667]  [MGI Ref ID J:101708]

Kuijper S; Feitsma H; Sheth R; Korving J; Reijnen M; Meijlink F. 2005. Function and regulation of Alx4 in limb development: complex genetic interactions with Gli3 and Shh. Dev Biol 285(2):533-44. [PubMed: 16039644]  [MGI Ref ID J:101265]

Kuschel S; Ruther U; Theil T. 2003. A disrupted balance between Bmp/Wnt and Fgf signaling underlies the ventralization of the Gli3 mutant telencephalon. Dev Biol 260(2):484-95. [PubMed: 12921747]  [MGI Ref ID J:84901]

Lebel M; Mo R; Shimamura K; Hui CC. 2007. Gli2 and Gli3 play distinct roles in the dorsoventral patterning of the mouse hindbrain. Dev Biol 302(1):345-55. [PubMed: 17026983]  [MGI Ref ID J:119875]

Lei Q; Jeong Y; Misra K; Li S; Zelman AK; Epstein DJ; Matise MP. 2006. Wnt signaling inhibitors regulate the transcriptional response to morphogenetic Shh-Gli signaling in the neural tube. Dev Cell 11(3):325-37. [PubMed: 16950124]  [MGI Ref ID J:112802]

Lei Q; Zelman AK; Kuang E; Li S; Matise MP. 2004. Transduction of graded Hedgehog signaling by a combination of Gli2 and Gli3 activator functions in the developing spinal cord. Development 131(15):3593-604. [PubMed: 15215207]  [MGI Ref ID J:92067]

Li Y; Zhang H; Choi SC; Litingtung Y; Chiang C. 2004. Sonic hedgehog signaling regulates Gli3 processing, mesenchymal proliferation, and differentiation during mouse lung organogenesis. Dev Biol 270(1):214-31. [PubMed: 15136151]  [MGI Ref ID J:92194]

Litingtung Y; Chiang C. 2000. Specification of ventral neuron types is mediated by an antagonistic interaction between shh and gli3 Nat Neurosci 3(10):979-85. [PubMed: 11017169]  [MGI Ref ID J:64758]

Litingtung Y; Dahn RD; Li Y; Fallon JF; Chiang C. 2002. Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity. Nature 418(6901):979-83. [PubMed: 12198547]  [MGI Ref ID J:78941]

Martin B; Lapouble E; Chaix Y. 2007. Involvement of the Gli3 (extra-toes) gene region in body weight in mice. ScientificWorldJournal 7:83-6. [PubMed: 17334602]  [MGI Ref ID J:122515]

Martinelli DC; Fan CM. 2007. Gas1 extends the range of Hedgehog action by facilitating its signaling. Genes Dev 21(10):1231-43. [PubMed: 17504940]  [MGI Ref ID J:121554]

Masuya H; Sagai T; Moriwaki K; Shiroishi T. 1997. Multigenic control of the localization of the zone of polarizing activity in limb morphogenesis in the mouse. Dev Biol 182(1):42-51. [PubMed: 9073443]  [MGI Ref ID J:38196]

Masuya H; Sagai T; Wakana S; Moriwaki K; Shiroishi T. 1995. A duplicated zone of polarizing activity in polydactylous mouse mutants. Genes Dev 9(13):1645-53. [PubMed: 7628698]  [MGI Ref ID J:27442]

Matera I; Watkins-Chow DE; Loftus SK; Hou L; Incao A; Silver DL; Rivas C; Elliott EC; Baxter LL; Pavan WJ. 2008. A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. Hum Mol Genet 17(14):2118-31. [PubMed: 18397875]  [MGI Ref ID J:136642]

Mau E; Whetstone H; Yu C; Hopyan S; Wunder JS; Alman BA. 2007. PTHrP regulates growth plate chondrocyte differentiation and proliferation in a Gli3 dependent manner utilizing hedgehog ligand dependent and independent mechanisms. Dev Biol 305(1):28-39. [PubMed: 17328886]  [MGI Ref ID J:121301]

Maynard TM; Jain MD; Balmer CW; LaMantia AS. 2002. High-resolution mapping of the Gli3 mutation extra-toes<J> reveals a 51.5-kb deletion. Mamm Genome 13(1):58-61. [PubMed: 11773971]  [MGI Ref ID J:76587]

McDermott A; Gustafsson M; Elsam T; Hui CC; Emerson CP Jr; Borycki AG. 2005. Gli2 and Gli3 have redundant and context-dependent function in skeletal muscle formation. Development 132(2):345-57. [PubMed: 15604102]  [MGI Ref ID J:95326]

McGlinn E; Richman JM; Metzis V; Town L; Butterfield NC; Wainwright BJ; Wicking C. 2008. Expression of the NET family member Zfp503 is regulated by hedgehog and BMP signaling in the limb. Dev Dyn 237(4):1172-82. [PubMed: 18351672]  [MGI Ref ID J:132977]

McGlinn E; van Bueren KL; Fiorenza S; Mo R; Poh AM; Forrest A; Soares MB; Bonaldo Mde F; Grimmond S; Hui CC; Wainwright B; Wicking C. 2005. Pax9 and Jagged1 act downstream of Gli3 in vertebrate limb development. Mech Dev 122(11):1218-33. [PubMed: 16169709]  [MGI Ref ID J:102872]

Mill P; Mo R; Fu H; Grachtchouk M; Kim PC; Dlugosz AA; Hui CC. 2003. Sonic hedgehog-dependent activation of Gli2 is essential for embryonic hair follicle development. Genes Dev 17(2):282-94. [PubMed: 12533516]  [MGI Ref ID J:81295]

Mill P; Mo R; Hu MC; Dagnino L; Rosenblum ND; Hui CC. 2005. Shh controls epithelial proliferation via independent pathways that converge on N-Myc. Dev Cell 9(2):293-303. [PubMed: 16054035]  [MGI Ref ID J:100687]

Mo R; Freer AM; Zinyk DL; Crackower MA; Michaud J; Heng HH; Chik KW; Shi XM; Tsui LC; Cheng SH; Joyner AL; Hui C. 1997. Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development. Development 124(1):113-23. [PubMed: 9006072]  [MGI Ref ID J:38381]

Mo R; Kim JH; Zhang J; Chiang C; Hui CC; Kim PC. 2001. Anorectal malformations caused by defects in sonic hedgehog signaling. Am J Pathol 159(2):765-74. [PubMed: 11485934]  [MGI Ref ID J:70870]

Moribe H; Takagi T; Kondoh H; Higashi Y. 2000. Suppression of polydactyly of the Gli3 mutant (extra toes) by deltaEF1 homozygous mutation. Dev Growth Differ 42(4):367-76. [PubMed: 10969736]  [MGI Ref ID J:103158]

Motoyama J; Liu J; Mo R; Ding Q; Post M; Hui CC. 1998. Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus [see comments] Nat Genet 20(1):54-7. [PubMed: 9731531]  [MGI Ref ID J:49603]

Motoyama J; Milenkovic L; Iwama M; Shikata Y; Scott MP; Hui CC. 2003. Differential requirement for Gli2 and Gli3 in ventral neural cell fate specification. Dev Biol 259(1):150-61. [PubMed: 12812795]  [MGI Ref ID J:84056]

Oh S; Huang X; Chiang C. 2005. Specific requirements of sonic hedgehog signaling during oligodendrocyte development. Dev Dyn 234(3):489-96. [PubMed: 15880651]  [MGI Ref ID J:119850]

Ohba S; Kawaguchi H; Kugimiya F; Ogasawara T; Kawamura N; Saito T; Ikeda T; Fujii K; Miyajima T; Kuramochi A; Miyashita T; Oda H; Nakamura K; Takato T; Chung UI. 2008. Patched1 haploinsufficiency increases adult bone mass and modulates Gli3 repressor activity. Dev Cell 14(5):689-99. [PubMed: 18477452]  [MGI Ref ID J:135169]

Okada T; Okumura Y; Motoyama J; Ogawa M. 2008. FGF8 signaling patterns the telencephalic midline by regulating putative key factors of midline development. Dev Biol 320(1):92-101. [PubMed: 18547559]  [MGI Ref ID J:139160]

Palma V; Ruiz i Altaba A. 2004. Hedgehog-GLI signaling regulates the behavior of cells with stem cell properties in the developing neocortex. Development 131(2):337-45. [PubMed: 14681189]  [MGI Ref ID J:90384]

Panman L; Drenth T; Tewelscher P; Zuniga A; Zeller R. 2005. Genetic interaction of Gli3 and Alx4 during limb development. Int J Dev Biol 49(4):443-8. [PubMed: 15968591]  [MGI Ref ID J:101476]

Park HL; Bai C; Platt KA; Matise MP; Beeghly A; Hui CC; Nakashima M; Joyner AL. 2000. Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation. Development 127(8):1593-605. [PubMed: 10725236]  [MGI Ref ID J:60986]

Persson M; Stamataki D; te Welscher P; Andersson E; Bose J; Ruther U; Ericson J; Briscoe J. 2002. Dorsal-ventral patterning of the spinal cord requires Gli3 transcriptional repressor activity. Genes Dev 16(22):2865-78. [PubMed: 12435629]  [MGI Ref ID J:80207]

Rallu M; Machold R; Gaiano N; Corbin JG; McMahon AP; Fishell G. 2002. Dorsoventral patterning is established in the telencephalon of mutants lacking both Gli3 and Hedgehog signaling. Development 129(21):4963-74. [PubMed: 12397105]  [MGI Ref ID J:79856]

Rash BG; Grove EA. 2007. Patterning the dorsal telencephalon: a role for sonic hedgehog? J Neurosci 27(43):11595-603. [PubMed: 17959802]  [MGI Ref ID J:127039]

Ruzhynsky VA; McClellan KA; Vanderluit JL; Jeong Y; Furimsky M; Park DS; Epstein DJ; Wallace VA; Slack RS. 2007. Cell cycle regulator E2F4 is essential for the development of the ventral telencephalon. J Neurosci 27(22):5926-35. [PubMed: 17537963]  [MGI Ref ID J:121968]

Sheth R; Bastida MF; Ros M. 2007. Hoxd and Gli3 interactions modulate digit number in the amniote limb. Dev Biol 310(2):430-41. [PubMed: 17714700]  [MGI Ref ID J:128015]

Shibukawa Y; Young B; Wu C; Yamada S; Long F; Pacifici M; Koyama E. 2007. Temporomandibular joint formation and condyle growth require Indian hedgehog signaling. Dev Dyn 236(2):426-34. [PubMed: 17191253]  [MGI Ref ID J:117221]

Tan M; Hu X; Qi Y; Park J; Cai J; Qiu M. 2006. Gli3 mutation rescues the generation, but not the differentiation, of oligodendrocytes in Shh mutants. Brain Res 1067(1):158-63. [PubMed: 16336945]  [MGI Ref ID J:105340]

Theil T. 2005. Gli3 is required for the specification and differentiation of preplate neurons. Dev Biol 286(2):559-71. [PubMed: 16168404]  [MGI Ref ID J:103594]

Theil T; Alvarez-Bolado G; Walter A; Ruther U. 1999. Gli3 is required for Emx gene expression during dorsal telencephalon development. Development 126(16):3561-71. [PubMed: 10409502]  [MGI Ref ID J:53903]

Theil T; Aydin S; Koch S; Grotewold L; Ruther U. 2002. Wnt and Bmp signalling cooperatively regulate graded Emx2 expression in the dorsal telencephalon. Development 129(13):3045-54. [PubMed: 12070081]  [MGI Ref ID J:79849]

Tole S; Ragsdale CW; Grove EA. 2000. Dorsoventral patterning of the telencephalon is disrupted in the mouse mutant extra-toes(J). Dev Biol 217(2):254-65. [PubMed: 10625551]  [MGI Ref ID J:59923]

Tomioka N; Osumi N; Sato Y; Inoue T; Nakamura S; Fujisawa H; Hirata T. 2000. Neocortical origin and tangential migration of guidepost neurons in the lateral olfactory tract. J Neurosci 20(15):5802-12. [PubMed: 10908621]  [MGI Ref ID J:63610]

Veltmaat JM; Relaix F; Le LT; Kratochwil K; Sala FG; van Veelen W; Rice R; Spencer-Dene B; Mailleux AA; Rice DP; Thiery JP; Bellusci S. 2006. Gli3-mediated somitic Fgf10 expression gradients are required for the induction and patterning of mammary epithelium along the embryonic axes. Development 133(12):2325-35. [PubMed: 16720875]  [MGI Ref ID J:109476]

Vierkotten J; Dildrop R; Peters T; Wang B; Ruther U. 2007. Ftm is a novel basal body protein of cilia involved in Shh signalling. Development 134(14):2569-77. [PubMed: 17553904]  [MGI Ref ID J:122745]

Vyas A; Saha B; Lai E; Tole S. 2003. Paleocortex is specified in mice in which dorsal telencephalic patterning is severely disrupted. J Comp Neurol 466(4):545-53. [PubMed: 14566948]  [MGI Ref ID J:86254]

Wang C; Pan Y; Wang B. 2007. A hypermorphic mouse Gli3 allele results in a polydactylous limb phenotype. Dev Dyn 236(3):769-76. [PubMed: 17266131]  [MGI Ref ID J:118340]

Wang C; Ruther U; Wang B. 2007. The Shh-independent activator function of the full-length Gli3 protein and its role in vertebrate limb digit patterning. Dev Biol 305(2):460-9. [PubMed: 17400206]  [MGI Ref ID J:121609]

Zakany J; Zacchetti G; Duboule D. 2007. Interactions between HOXD and Gli3 genes control the limb apical ectodermal ridge via Fgf10. Dev Biol 306(2):883-93. [PubMed: 17467687]  [MGI Ref ID J:122561]

Zuniga A; Zeller R. 1999. Gli3 (Xt) and formin (ld) participate in the positioning of the polarising region and control of posterior limb-bud identity. Development 126(1):13-21. [PubMed: 9834182]  [MGI Ref ID J:49322]

te Welscher P; Zuniga A; Kuijper S; Drenth T; Goedemans HJ; Meijlink F; Zeller R. 2002. Progression of vertebrate limb development through SHH-mediated counteraction of GLI3. Science 298(5594):827-30. [PubMed: 12215652]  [MGI Ref ID J:79710]

van Tuyl M; Groenman F; Wang J; Kuliszewski M; Liu J; Tibboel D; Post M. 2007. Angiogenic factors stimulate tubular branching morphogenesis of sonic hedgehog-deficient lungs. Dev Biol 303(2):514-526. [PubMed: 17187775]  [MGI Ref ID J:119174]

Mc1r^E-so related

Bateman N. 1961. Sombre, a viable dominant mutant in the house mouse. J Hered 52:186-189.  [MGI Ref ID J:13077]

Lamoreux ML; Wakamatsu K; Ito S. 2001. Interaction of major coat color gene functions in mice as studied by chemical analysis of eumelanin and pheomelanin. Pigment Cell Res 14(1):23-31. [PubMed: 11277491]  [MGI Ref ID J:103803]

Robbins LS; Nadeau JH; Johnson KR; Kelly MA; Roselli-Rehfuss L; Baack E; Mountjoy KG; Cone RD. 1993. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72(6):827-34. [PubMed: 8458079]  [MGI Ref ID J:4636]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Wolff GL; Galbraith DB; Domon OE; Row JM. 1978. Phaeomelanin synthesis and obesity in mice. Interaction of the viable yellow (Avy) and sombre (eso) mutations. J Hered 69(5):295-8. [PubMed: 744871]  [MGI Ref ID J:6103]

Tw related

Gong SG. 2001. Characterization of olfactory nerve abnormalities in Twirler mice. Differentiation 69(1):58-65. [PubMed: 11776395]  [MGI Ref ID J:73312]

Gong SG; Eulenberg RL. 2001. Palatal development in Twirler mice. Cleft Palate Craniofac J 38(6):622-8. [PubMed: 11681996]  [MGI Ref ID J:106502]

Gong SG; White NJ; Sakasegawa AY. 2000. The Twirler mouse, a model for the study of cleft lip and palate Arch Oral Biol 45(1):87-94. [PubMed: 10669096]  [MGI Ref ID J:60496]

Hollander WF. 1973. sr and Tw are not alleles, and seem independent Mouse News Lett 48:33.  [MGI Ref ID J:27529]

LYON MF. 1958. Twirler: a mutant affecting the inner ear of the house mouse. J Embryol Exp Morphol 6(1):105-16. [PubMed: 13539273]  [MGI Ref ID J:274]

Liu H; Liu W; Maltby KM; Lan Y; Jiang R. 2006. Identification and developmental expression analysis of a novel homeobox gene closely linked to the mouse Twirler mutation. Gene Expr Patterns 6(6):632-6. [PubMed: 16426902]  [MGI Ref ID J:109156]

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.

General Terms and Conditions

See Terms of Use

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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Ordering and Purchasing Information

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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

No Liability

In no event shall The Jackson Laboratory, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, products or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, products and services by The Jackson Laboratory, and by its licensees and distributors.

Acceptance of delivery of MICE, products or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on The Jackson Laboratory, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, products services by The Jackson Laboratory.