Phenotypes associated with this allele

• Allele Symbol: Gli3⁺
• Allele Name: wild type
• Allele ID: MGI:1857475
• Summary: 39 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gli3^Xt-J/Gli3^+	C3HeB/FeJ-Mc1r^E-so Gli3^Xt-J/J	MGI:3707687
ht2	Gli3^tm1Urt/Gli3^+	either: 129P2/OlaHsd-Gli3^Tm1Urt or (involves: 129P2/OlaHsd * C57BL/6)	MGI:3700823
ht3	Gli3^Xt/Gli3^+	involves: 101/H * 129 * C3H/HeH * C57BL/6	MGI:3711903
ht4	Gli3^Xt-6H/Gli3^+	involves: 101/H * C3H/HeH	MGI:3784703
ht5	Gli3^Xt-2H/Gli3^+	involves: 101/H * C3H/HeH	MGI:3784696
ht6	Gli3^Xt-3H/Gli3^+	involves: 101/H * C3H/HeH	MGI:3784698
ht7	Gli3^Xt-4H/Gli3^+	involves: 101/H * C3H/HeH	MGI:3784701
ht8	Gli3^Xt-5H/Gli3^+	involves: 101/H * C3H/HeH	MGI:3784702
ht9	Gli3^tm2Blnw/Gli3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N	MGI:3711902
ht10	Gli3^Xt-J/Gli3^+	involves: 129/Sv * C3H/HeJ * C57BL/6	MGI:3711904
ht11	Gli3^Mos1/Gli3^+	involves: BALB/cJ * C57BL/6J	MGI:3797122
ht12	Gli3^Xt-J/Gli3^+	involves: C3H * CD-1	MGI:3614408
ht13	Gli3^Xt-J/Gli3^+	involves: C3H/HeJ	MGI:5562305
ht14	Gli3^Xt-J/Gli3^+	involves: C3H/HeJ * C57BL/6J * C57BL/6NHsd	MGI:3811811
ht15	Gli3^TgBR/Gli3^+	involves: C57BL/6J	MGI:2668574
ht16	Gli3^Pdn/Gli3^+	involves: Jcl:ICR	MGI:2656898
cn17	Gli3^tm1Alj/Gli3^+ Tgif1^tm1Caw/Tgif1^tm1Caw Tgif2^tm1Dwot/Tgif2^tm1Dwot Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * CBA	MGI:5791934
cn18	Gli3^tm3.1Blnw/Gli3^+ Tg(Prrx1-cre)1Cjt/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL	MGI:5810678
cn19	Gli3^Xt-J/Gli3^+ Spop^tm1c(KOMP)Mbp/Spop^tm1c(KOMP)Mbp Tg(Prrx1-cre)1Cjt/0	involves: C3H/HeJ * C57BL/6J * C57BL/6N * SJL/J	MGI:5896743
cx20	Gli2^tm3.1(Gli1)Alj/Gli2^+ Gli3^Xt-J/Gli3^+	either: (involves: 129S6/SvEvTac * C3H/HeJ) or (involves: 129S6/SvEvTac * Black Swiss * C3H/HeJ)	MGI:3846354
cx21	Gli2^tm1Alj/Gli2^tm1Alj Gli3^Xt/Gli3^+	involves: 101/H * 129S1/Sv * 129X1/SvJ * C3H/HeH * C57BL * CBA/H * Swiss Webster	MGI:4414946
cx22	Gli3^Mos1/Gli3^+ Sox10^tm1Weg/Sox10^+	involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J	MGI:3797124
cx23	Gli2^tm1Alj/Gli2^tm1Alj Gli3^Xt-J/Gli3^+	involves: 129S1/Sv * 129X1/SvJ * C3H * CD-1	MGI:2678685
cx24	Gli2^tm1Alj/Gli2^+ Gli3^Xt-J/Gli3^+	involves: 129S1/Sv * 129X1/SvJ * C3H * CD-1	MGI:3614416
cx25	Gli3^Xt-J/Gli3^+ Sox10^tm1Weg/Sox10^+	involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ	MGI:3797123
cx26	Gli3^tm1.2Zllr/Gli3^+ Pkdcc^tm1.2Azun/Pkdcc^tm1.2Azun	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5523594
cx27	Gli3^tm2Blnw/Gli3^+ Shh^tm1Chg/Shh^tm1Chg	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N	MGI:3711913
cx28	Gli2^tm1Alj/Gli2^tm1Alj Gli3^Xt/Gli3^+	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:4936754
cx29	Gli1^tm1Alj/Gli1^tm1Alj Gli3^Xt-J/Gli3^+	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3614422
cx30	Bmp4^tm1Blh/Bmp4^+ Gli3^Xt-J/Gli3^+	involves: 129S2/SvPas * C3H/HeJ * C57BL/6J * C57BL/6NHsd	MGI:3811812
cx31	Gli2^tm2.1Alj/Gli2^tm2.1Alj Gli3^Xt-J/Gli3^+	involves: 129S6/SvEvTac * Black Swiss * C3H/HeJ * C57BL/6 * Swiss Webster	MGI:3795688
cx32	Gli2^tm3(Gli1)Alj/Gli2^tm3(Gli1)Alj Gli3^Xt-J/Gli3^+	involves: 129S6/SvEvTac * Black Swiss * C3H/HeJ * C57BL/6 * Swiss Webster	MGI:3795687
cx33	Cdk20^tm1.1Jegg/Cdk20^tm1.1Jegg Gli3^Xt-J/Gli3^+	involves: 129S7/SvEvBrd * C3H/HeJ * FVB/N	MGI:6113537
cx34	Gli3^Xt-J/Gli3^+ Rr26^tm1Svok/Rr26^+	involves: 129X1/SvJ * C3H/HeJ	MGI:5562304
cx35	Gli3^Xt-J/Gli3^+ Rr26^tm1Svok/Rr26^tm1Svok	involves: 129X1/SvJ * C3H/HeJ	MGI:5562303
cx36	Gli3^Mos1/Gli3^+ Tg(Dct-lacZ)A12Jkn/0	involves: BALB/cJ * C57BL/6 * C57BL/6J * CBA	MGI:3797120
cx37	Gli3^Xt-J/Gli3^+ Tulp3^hhkr/Tulp3^hhkr	involves: C3H/HeH * C3H/HeJ * C57BL/6	MGI:3842145
cx38	Gli3^Xt-J/Gli3^+ Tulp3^hhkr/Tulp3^+	involves: C3H/HeH * C3H/HeJ * C57BL/6	MGI:3842144
cx39	Gli3^TgBR/Gli3^+ Scrib^Crc/Scrib^Crc	involves: C57BL/6J * NMRI	MGI:4415141

Genotype
MGI:3707687

ht1

• Allelic Composition: Gli3^Xt-J/Gli3⁺
• Genetic Background: C3HeB/FeJ-Mc1r^E-so Gli3^Xt-J/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Gli3^Xt-J/⁺

limbs/digits/tail

polydactyly ( J:27442 )

• duplication of digit 1 (thumb polydactyly) of the hindlimbs

Genotype
MGI:3700823

ht2

• Allelic Composition: Gli3^tm1Urt/Gli3⁺
• Genetic Background: either: 129P2/OlaHsd-Gli3^Tm1Urt or (involves: 129P2/OlaHsd * C57BL/6)

limbs/digits/tail

polydactyly ( J:76496 )

• Background Sensitivity: 3% of heterozygotes on a mixed 129P2/OlaHsd and C57BL/6 background exhibit a postaxial extra digit on the forelimbs, while on a coisogenic 129P2/OlaHsd background, 6% exhibit the extra digit; the digit is not well formed and frequently occurs in the form of a unilateral skin tag

Genotype
MGI:3711903

ht3

• Allelic Composition: Gli3^Xt/Gli3⁺
• Genetic Background: involves: 101/H * 129 * C3H/HeH * C57BL/6

limbs/digits/tail

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 Gli3^tm2Blnw homozygotes

abnormal phalanx morphology ( J:121609 )

• phalanges in some digits are undivided and longer than those in Gli3^tm2Blnw 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

abnormal phalanx morphology ( J:121609 )

• phalanges in some digits are undivided and longer than those in Gli3^tm2Blnw 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

Genotype
MGI:3784703

ht4

• Allelic Composition: Gli3^Xt-6H/Gli3⁺
• Genetic Background: involves: 101/H * C3H/HeH

limbs/digits/tail

abnormal digit morphology ( J:5053 )

• effects of mutation are indistinguishable from those observed in Gli^Xt heterozygotes

Genotype
MGI:3784696

ht5

• Allelic Composition: Gli3^Xt-2H/Gli3⁺
• Genetic Background: involves: 101/H * C3H/HeH

limbs/digits/tail

abnormal digit morphology ( J:5053 )

• effects of mutation are indistinguishable from those observed in Gli^Xt heterozygotes

Genotype
MGI:3784698

ht6

• Allelic Composition: Gli3^Xt-3H/Gli3⁺
• Genetic Background: involves: 101/H * C3H/HeH

limbs/digits/tail

abnormal digit morphology ( J:5053 , J:5123 )

• preaxial digits of fore-feet are more markedly shortened than in Gli3^Xt heterozygotes (J:5053)

• in some animals, hind-feet may show a double claw malformation (J:5053)

• forefoot has a nubbin at base of digit V; in extreme cases, digit II may be flexed (J:5123)

• pollex is broadened (J:5123)

abnormal hallux morphology ( J:5053 , J:5123 )

• hind-feet display a shortening and thickening of the hallux, rather than having a separate extra digital rudiment (J:5053)

• hallux of hind-feet is thick and carries a broad claw (J:5123)

• hallux may be grooved longitudinally (J:5123)

brachyphalangia ( J:5053 )

• preaxial digits of fore-feet are more markedly shortened than in Gli3^Xt heterozygotes

syndactyly ( J:5123 )

• in some familial lines of mutants, soft tissue syndactylism between digits II, III, and IV of hind-foot and digits III and IV of fore-foot is regularly observed

polysyndactyly ( J:5053 )

• in some animals, hind-feet may show syndactylous extra phalanges

skeleton

abnormal interfrontal bone morphology ( J:5123 )

• interfrontal bone is present with greater frequency than in wild-type littermates

brachyphalangia ( J:5053 )

• preaxial digits of fore-feet are more markedly shortened than in Gli3^Xt heterozygotes

abnormal sternum morphology ( J:5123 )

• sternum is usually affected with individual sternebrae being indistinguishable in some cases; sternum is shortened and thickened

sternebra fusion ( J:5123 )

• in some animals, sternebral fusions are observed

short sternum ( J:5123 )

• sternum is shortened

craniofacial

abnormal facial morphology ( J:5123 )

• some fetuses have a transitional facial bleb confined to the 13-day embryonic stage

abnormal interfrontal bone morphology ( J:5123 )

• interfrontal bone is present with greater frequency than in wild-type littermates

pigmentation

belly spot ( J:5123 )

• Background Sensitivity: a belly spot may be seen depending on genetic background

integument

belly spot ( J:5123 )

• Background Sensitivity: a belly spot may be seen depending on genetic background

growth/size/body

abnormal facial morphology ( J:5123 )

• some fetuses have a transitional facial bleb confined to the 13-day embryonic stage

abnormal interfrontal bone morphology ( J:5123 )

• interfrontal bone is present with greater frequency than in wild-type littermates

Genotype
MGI:3784701

ht7

• Allelic Composition: Gli3^Xt-4H/Gli3⁺
• Genetic Background: involves: 101/H * C3H/HeH

limbs/digits/tail

abnormal digit morphology ( J:5053 )

• effects of mutation similar to those observed in Gli3^Xt heterozygotes

Genotype
MGI:3784702

ht8

• Allelic Composition: Gli3^Xt-5H/Gli3⁺
• Genetic Background: involves: 101/H * C3H/HeH

limbs/digits/tail

abnormal digit morphology ( J:5053 )

• effects of mutation are indistinguishable from those observed in Gli^Xt heterozygotes

Genotype
MGI:3711902

ht9

• Allelic Composition: Gli3^tm2Blnw/Gli3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

limbs/digits/tail

polydactyly ( J:121609 )

• complete duplication of first digit on each limb

• however, digit identity is normal

Genotype
MGI:3711904

ht10

• Allelic Composition: Gli3^Xt-J/Gli3⁺
• Genetic Background: involves: 129/Sv * C3H/HeJ * C57BL/6

limbs/digits/tail

polyphalangy ( J:121609 )

• there is an extra phalange in the first digit

skeleton

polyphalangy ( J:121609 )

• there is an extra phalange in the first digit

Genotype
MGI:3797122

ht11

• Allelic Composition: Gli3^Mos1/Gli3⁺
• Genetic Background: involves: BALB/cJ * C57BL/6J

pigmentation

belly spot ( J:136642 )

• mice exhibit a ventral hypopigmented patch

hypopigmentation ( J:136642 )

• 37.7% of mice exhibit ventral hypopigmentation

• however, melanoblasts differentiate in vitro

integument

belly spot ( J:136642 )

• mice exhibit a ventral hypopigmented patch

Genotype
MGI:3614408

ht12

• Allelic Composition: Gli3^Xt-J/Gli3⁺
• Genetic Background: involves: C3H * CD-1

limbs/digits/tail

polydactyly ( J:38381 )

• display mild preaxial polydactyly in both fore- and hindlimbs

abnormal embryonic autopod plate morphology ( J:4086 )

• at day 12 of gestation, footpads are enlarged at the area destined to become digit 1

Genotype
MGI:5562305

ht13

• Allelic Composition: Gli3^Xt-J/Gli3⁺
• Genetic Background: involves: C3H/HeJ

limbs/digits/tail

polydactyly ( J:207959 )

• in 4 of 17 forelimbs

Genotype
MGI:3811811

ht14

• Allelic Composition: Gli3^Xt-J/Gli3⁺
• Genetic Background: involves: C3H/HeJ * C57BL/6J * C57BL/6NHsd

limbs/digits/tail

polydactyly ( J:42445 )

• 12% with unilateral anterior polydactyly involving the hind limbs only

Genotype
MGI:2668574

ht15

• Allelic Composition: Gli3^TgBR/Gli3⁺
• Genetic Background: involves: C57BL/6J

limbs/digits/tail

preaxial polydactyly ( J:77245 )

• 100% of mutants exhibit preaxial polydactyly

nervous system

hydrocephaly ( J:77245 )

• hydrocephaly is noted as occasional

Genotype
MGI:2656898

ht16

• Allelic Composition: Gli3^Pdn/Gli3⁺
• Genetic Background: involves: Jcl:ICR

limbs/digits/tail

abnormal digit morphology ( J:12736 )

• enlarged first digit on the forelimb, often showing a bifurcated distal phalanx

• often displayed an extra tab on the postaxial side of the forelimb, which regressed with age

polydactyly ( J:12736 )

• 1 extra preaxial digits on the hindlimb, that remained rudimentary with age

Genotype
MGI:5791934

cn17

• Allelic Composition: Gli3^tm1Alj/Gli3⁺; Tgif1^tm1Caw/Tgif1^tm1Caw; Tgif2^tm1Dwot/Tgif2^tm1Dwot; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * CBA

nervous system

abnormal forebrain development ( J:183402 )

• reduced Gli3 levels partially rescues ventral forebrain morphology observed in double mutants with less disorganization and partially separated cephalic folds

exencephaly ( J:183402 )

• in half of mice at E18.5

decreased embryonic neuroepithelial cell proliferation ( J:183402 )

• at E10.0

embryo

abnormal cephalic neural fold morphology ( J:183402 )

• partially separated cephalic folds

craniofacial

abnormal olfactory epithelium morphology ( J:183402 )

• partially rescued nasal field separation defect

growth/size/body

abnormal olfactory epithelium morphology ( J:183402 )

• partially rescued nasal field separation defect

respiratory system

abnormal olfactory epithelium morphology ( J:183402 )

• partially rescued nasal field separation defect

taste/olfaction

abnormal olfactory epithelium morphology ( J:183402 )

• partially rescued nasal field separation defect

Genotype
MGI:5810678

cn18

• Allelic Composition: Gli3^tm3.1Blnw/Gli3⁺; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

limbs/digits/tail

abnormal autopod morphology ( J:199480 )

• ~50% of mice display hindlimb autopods with fused digits, while the rest have normal hindlimb autopods

decreased autopod size ( J:199480 )

• E16.5 forelimb autopods are much smaller than those in control mice

brachydactyly ( J:199480 )

• forelimb digits are shorter

oligodactyly ( J:199480 )

• at E16.5, forelimb digit number varies from 3 to 5, with some digits fused (oligosyndactyly)

• at E16.5, two of 5 mice show normal hindlimb autopods, while the rest show 3 to 5 digits, some of which are fused or partial

syndactyly ( J:199480 )

• forelimb digits are fused and shorter, making it difficult to determine digit number

• ~50% of mice display hindlimb autopods with fused digits

short humerus ( J:199480 )

• at E16.5, the humerus is slightly shorter than that in wild-type controls

abnormal forelimb zeugopod morphology ( J:199480 )

• at E16.5, the forelimb zeugopod elements, radius and ulna, are bent and much shorter than those in control mice

bowed radius ( J:199480 )

• at E16.5

short radius ( J:199480 )

• at E16.5, the radius is much shorter than that in wild-type controls

bowed ulna ( J:199480 )

• at E16.5

short ulna ( J:199480 )

• at E16.5, the ulna is much shorter than that in wild-type controls

short forelimb ( J:199480 )

• adult and E16.5 forelimbs are markedly shorter with consistently smaller autopods than those in control mice

abnormal hindlimb morphology ( J:199480 )

• ~50% of adult and E16.5 mice display hindlimb autopods with fused digits

• however, hindlimb length is normal

short femur ( J:199480 )

• at E16.5, the femur is slightly shorter than that in wild-type controls

• however, patterning appears normal

short fibula ( J:199480 )

• at E16.5, the fibula is slightly shorter than that in wild-type controls

• however, patterning appears normal

short tibia ( J:199480 )

• at E16.5, the tibia is slightly shorter than that in wild-type controls

• however, patterning appears normal

skeleton

short humerus ( J:199480 )

• at E16.5, the humerus is slightly shorter than that in wild-type controls

bowed radius ( J:199480 )

• at E16.5

short radius ( J:199480 )

• at E16.5, the radius is much shorter than that in wild-type controls

bowed ulna ( J:199480 )

• at E16.5

short ulna ( J:199480 )

• at E16.5, the ulna is much shorter than that in wild-type controls

short femur ( J:199480 )

• at E16.5, the femur is slightly shorter than that in wild-type controls

• however, patterning appears normal

short fibula ( J:199480 )

• at E16.5, the fibula is slightly shorter than that in wild-type controls

• however, patterning appears normal

short tibia ( J:199480 )

• at E16.5, the tibia is slightly shorter than that in wild-type controls

• however, patterning appears normal

short scapula ( J:199480 )

• at E16.5, the distal scapula is slightly shorter than that in wild-type controls

failure of endochondral bone ossification ( J:199480 )

• at E16.5, forelimb autopods often lack ossification

Genotype
MGI:5896743

cn19

• Allelic Composition: Gli3^Xt-J/Gli3⁺; Spop^{tm1c(KOMP)Mbp}/Spop^{tm1c(KOMP)Mbp}; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: C3H/HeJ * C57BL/6J * C57BL/6N * SJL/J

skeleton

skeleton phenotype ( J:239074 )

N • length of metacarpals, metatarsals and phalanges are similar to controls and significantly longer than in conditional mice wild-type for Gli3

N • near wild-type levels of bone density and thickness of bone spicules are restored in the femur

Genotype
MGI:3846354

cx20

• Allelic Composition: Gli2^{tm3.1(Gli1)Alj}/Gli2⁺; Gli3^Xt-J/Gli3⁺
• Genetic Background: either: (involves: 129S6/SvEvTac * C3H/HeJ) or (involves: 129S6/SvEvTac * Black Swiss * C3H/HeJ)

mortality/aging

premature death ( J:73074 )

• females die by 6 weeks of age

limbs/digits/tail

polydactyly ( J:73074 )

• polydactyl is enhanced compared to mice heterozygous for Gli3^Xt-J alone

reproductive system

male infertility ( J:73074 )

♂ • all males are sterile

integument

progressive hair loss ( J:73074 )

• hair loss is more severe compared to mice heterozygous for Gli2^{tm3.1(Gli2)Alj} alone

Genotype
MGI:4414946

cx21

• Allelic Composition: Gli2^tm1Alj/Gli2^tm1Alj; Gli3^Xt/Gli3⁺
• Genetic Background: involves: 101/H * 129S1/Sv * 129X1/SvJ * C3H/HeH * C57BL * CBA/H * Swiss Webster

nervous system

increased neuronal precursor cell number ( J:87948 )

• the motor neuron progenitor domain is greatly expanded dorsally however motor neurons appear to differentiate normally

Genotype
MGI:3797124

cx22

• Allelic Composition: Gli3^Mos1/Gli3⁺; Sox10^tm1Weg/Sox10⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

pigmentation

belted ( J:136642 )

• mice exhibit an increased penetrance and severity of hypopigmentation compared to Sox10^tm1Weg heterozygotes with ventral hypopigmentation that often extends onto the dorsal surface forming a belt in the lumbar region

belly spot ( J:136642 )

• mice exhibit ventral hypopigmentation

hypopigmentation ( J:136642 )

• mice exhibit an increased penetrance and severity of hypopigmentation compared to Sox10^tm1Weg heterozygotes with ventral hypopigmentation that often extends onto the dorsal surface forming a belt in the lumbar region

• mice exhibit more hypopigmentation than in either single heterozygote

integument

belted ( J:136642 )

• mice exhibit an increased penetrance and severity of hypopigmentation compared to Sox10^tm1Weg heterozygotes with ventral hypopigmentation that often extends onto the dorsal surface forming a belt in the lumbar region

belly spot ( J:136642 )

• mice exhibit ventral hypopigmentation

Genotype
MGI:2678685

cx23

• Allelic Composition: Gli2^tm1Alj/Gli2^tm1Alj; Gli3^Xt-J/Gli3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * CD-1

craniofacial

mandible hypoplasia ( J:38381 )

• coronoid, condylar, angular and dental processes are hypoplastic

limbs/digits/tail

abnormal digit morphology ( J:38381 )

• on forelimbs, there is a postaxial stub of an extra digit

polydactyly ( J:38381 )

• display more severe preaxial polydactyly compared to Gli2 homozygotes

short humerus ( J:38381 )

• shortening of the humerus

short radius ( J:38381 )

• shortening of the radius; shortening is more severe than in the ulna

short ulna ( J:38381 )

• shortening of the ulna, although not as severe as the radius

short femur ( J:38381 )

short fibula ( J:38381 )

• not as severe as the tibia

short tibia ( J:38381 )

skeleton

abnormal skeleton morphology ( J:38381 )

• show an exacerbated phenotype in various skeletal elements with respect to Gli2 nulls

mandible hypoplasia ( J:38381 )

• coronoid, condylar, angular and dental processes are hypoplastic

abnormal long bone morphology ( J:38381 )

short humerus ( J:38381 )

• shortening of the humerus

short radius ( J:38381 )

• shortening of the radius; shortening is more severe than in the ulna

short ulna ( J:38381 )

• shortening of the ulna, although not as severe as the radius

short femur ( J:38381 )

short fibula ( J:38381 )

• not as severe as the tibia

short tibia ( J:38381 )

split sternum ( J:38381 )

• sternum is split rostrally and improperly segmented

abnormal vertebrae development ( J:38381 )

• there are severe abnormalities in chondrogenesis of ventral vertebral components

abnormal cartilage development ( J:38381 )

• there are severe abnormalities in chondrogenesis of ventral vertebral components

growth/size/body

mandible hypoplasia ( J:38381 )

• coronoid, condylar, angular and dental processes are hypoplastic

Genotype
MGI:3614416

cx24

• Allelic Composition: Gli2^tm1Alj/Gli2⁺; Gli3^Xt-J/Gli3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * CD-1

limbs/digits/tail

polydactyly ( J:38381 )

• not different from Gli3 heterozygotes

Genotype
MGI:3797123

cx25

• Allelic Composition: Gli3^Xt-J/Gli3⁺; Sox10^tm1Weg/Sox10⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ

pigmentation

belted ( J:136642 )

• mice exhibit an increased penetrance and severity of hypopigmentation compared to Sox10^tm1Weg heterozygotes with ventral hypopigmentation that often extends onto the dorsal surface forming a belt in the lumbar region

belly spot ( J:136642 )

• mice exhibit ventral hypopigmentation

hypopigmentation ( J:136642 )

• mice exhibit an increased penetrance and severity of hypopigmentation compared to Sox10^tm1Weg heterozygotes with ventral hypopigmentation that often extends onto the dorsal surface forming a belt in the lumbar region

• mice exhibit more hypopigmentation than in either single heterozygote

integument

belted ( J:136642 )

• mice exhibit an increased penetrance and severity of hypopigmentation compared to Sox10^tm1Weg heterozygotes with ventral hypopigmentation that often extends onto the dorsal surface forming a belt in the lumbar region

belly spot ( J:136642 )

• mice exhibit ventral hypopigmentation

Genotype
MGI:5523594

cx26

• Allelic Composition: Gli3^tm1.2Zllr/Gli3⁺; Pkdcc^tm1.2Azun/Pkdcc^tm1.2Azun
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

skeleton

decreased length of long bones ( J:199462 )

• shorter ossified section at birth

• more severe than in mice homozygous for the Pkdcc mutation alone

short humerus ( J:199462 )

• tibia and humerus are most severely affected

short tibia ( J:199462 )

• tibia and humerus are most severely affected

abnormal scapula morphology ( J:199462 )

• deformed in some mice at E16.5

delayed endochondral bone ossification ( J:199462 )

• in long bones

• more severe than in mice homozygous for the Pkdcc mutation alone

limbs/digits/tail

short humerus ( J:199462 )

• tibia and humerus are most severely affected

short tibia ( J:199462 )

• tibia and humerus are most severely affected

Genotype
MGI:3711913

cx27

• Allelic Composition: Gli3^tm2Blnw/Gli3⁺; Shh^tm1Chg/Shh^tm1Chg
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

limbs/digits/tail

abnormal limb morphology ( J:121609 )

• limb phenotypes are indistinguishable to those seen in Gli3^tm2Blnw homozygotes

abnormal autopod morphology ( J:121609 )

• digit identity is partially restored with 3 or 4 digits clearly mimicking digits 2 to 4 or 2 to 5 identities

• limb phenotypes are indistinguishable to those seen in Gli3^tm2Blnw homozygotes

abnormal digit morphology ( J:121609 )

• limb phenotypes are indistinguishable to those seen in Gli3^tm2Blnw homozygotes

abnormal phalanx morphology ( J:121609 )

• some digits have shortened phalanges

polydactyly ( J:121609 )

• digit 1 is sometimes duplicated

absent tibia ( J:121609 )

short tibia ( J:121609 )

skeleton

abnormal phalanx morphology ( J:121609 )

• some digits have shortened phalanges

absent tibia ( J:121609 )

short tibia ( J:121609 )

synostosis ( J:121609 )

Genotype
MGI:4936754

cx28

• Allelic Composition: Gli2^tm1Alj/Gli2^tm1Alj; Gli3^Xt/Gli3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

respiratory system

tracheoesophageal fistula ( J:49603 )

• at E11.5, mutant embryos display esophageal atresia with tracheoesophageal fistula, in which the esophagus is missing and the trachea is directly connected to the stomach

abnormal lung morphology ( J:49603 )

• at E16.5, the left and right lobes are fused, resulting in a single-lobed lung

abnormal lung development ( J:49603 )

• at E16.5, mutant lungs fail to separate into right and left lobes and are thus composed of a single lobe, whereas wild-type and homozygous Gli2^tm1Alj mutant lungs have five and two lobes, respectively

abnormal lung bud morphology ( J:49603 )

• mutant lung buds do not form until E10.0, unlike in wild-type and homozygous Gli2^tm1Alj mutant embryos where a pair of lung buds can be seen at E9.5

• at E11.5, an ectopic lung bud is found between the right and left lung buds

pulmonary hypoplasia ( J:49603 )

• at E16.5, mutant lungs are more hypoplastic than those of wild-type or homozygous Gli2^tm1Alj mutant embryos

abnormal tracheal cartilage morphology ( J:49603 )

• at E16.5, the tracheal cartilaginous rings are more severely malformed than those in Gli2^tm1Alj mutant embryos

trachea stenosis ( J:49603 )

• at E16.5, tracheal stenosis is more severe than that in Gli2^tm1Alj mutant lungs

digestive/alimentary system

esophageal atresia ( J:49603 )

• at E11.5, mutant embryos display esophageal atresia with tracheoesophageal fistula

tracheoesophageal fistula ( J:49603 )

• at E11.5, mutant embryos display esophageal atresia with tracheoesophageal fistula, in which the esophagus is missing and the trachea is directly connected to the stomach

skeleton

abnormal tracheal cartilage morphology ( J:49603 )

• at E16.5, the tracheal cartilaginous rings are more severely malformed than those in Gli2^tm1Alj mutant embryos

Genotype
MGI:3614422

cx29

• Allelic Composition: Gli1^tm1Alj/Gli1^tm1Alj; Gli3^Xt-J/Gli3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

limbs/digits/tail

polydactyly ( J:60986 )

Genotype
MGI:3811812

cx30

• Allelic Composition: Bmp4^tm1Blh/Bmp4⁺; Gli3^Xt-J/Gli3⁺
• Genetic Background: involves: 129S2/SvPas * C3H/HeJ * C57BL/6J * C57BL/6NHsd

limbs/digits/tail

abnormal autopod morphology ( J:42445 )

• apoptotic area in the preaxial mesoderm is completely absent at 12.5 days

• post axial apoptotic areas are normal

polydactyly ( J:42445 )

• 100% with unilateral anterior polydactyly involving the hind limbs only

• defect extends into the metatarsals

Genotype
MGI:3795688

cx31

• Allelic Composition: Gli2^tm2.1Alj/Gli2^tm2.1Alj; Gli3^Xt-J/Gli3⁺
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss * C3H/HeJ * C57BL/6 * Swiss Webster

reproductive system

reproductive system phenotype ( J:112460 )

N • embryos show normal mammary gland development

Genotype
MGI:3795687

cx32

• Allelic Composition: Gli2^tm3(Gli1)Alj/Gli2^tm3(Gli1)Alj; Gli3^Xt-J/Gli3⁺
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss * C3H/HeJ * C57BL/6 * Swiss Webster

endocrine/exocrine glands

abnormal mammary gland bud morphology ( J:112460 )

♀ • most embryos lack mammary bud pair number 3 and number 5

integument

abnormal mammary gland bud morphology ( J:112460 )

♀ • most embryos lack mammary bud pair number 3 and number 5

Genotype
MGI:6113537

cx33

• Allelic Composition: Cdk20^tm1.1Jegg/Cdk20^tm1.1Jegg; Gli3^Xt-J/Gli3⁺
• Genetic Background: involves: 129S7/SvEvBrd * C3H/HeJ * FVB/N

embryo

abnormal neural tube morphology ( J:243907 )

• variable rescue of floor plate specification

nervous system

abnormal neural tube morphology ( J:243907 )

• variable rescue of floor plate specification

Genotype
MGI:5562304

cx34

• Allelic Composition: Gli3^Xt-J/Gli3⁺; Rr26^tm1Svok/Rr26⁺
• Genetic Background: involves: 129X1/SvJ * C3H/HeJ

limbs/digits/tail

polydactyly ( J:207959 )

• in 23 of 28 forelimbs

Genotype
MGI:5562303

cx35

• Allelic Composition: Gli3^Xt-J/Gli3⁺; Rr26^tm1Svok/Rr26^tm1Svok
• Genetic Background: involves: 129X1/SvJ * C3H/HeJ

limbs/digits/tail

polydactyly ( J:207959 )

• in 3 of 8 hindlimbs

• of the thumb in all forelimbs

Genotype
MGI:3797120

cx36

• Allelic Composition: Gli3^Mos1/Gli3⁺; Tg(Dct-lacZ)A12Jkn/0
• Genetic Background: involves: BALB/cJ * C57BL/6 * C57BL/6J * CBA

embryo

abnormal melanoblast morphology ( J:136642 )

• at E16, mice exhibit a small ventral patch devoid of melanoblasts in the mid-trunk unlike in wild-type mice

nervous system

abnormal melanoblast morphology ( J:136642 )

• at E16, mice exhibit a small ventral patch devoid of melanoblasts in the mid-trunk unlike in wild-type mice

Genotype
MGI:3842145

cx37

• Allelic Composition: Gli3^Xt-J/Gli3⁺; Tulp3^hhkr/Tulp3^hhkr
• Genetic Background: involves: C3H/HeH * C3H/HeJ * C57BL/6

limbs/digits/tail

polydactyly ( J:147584 )

• mice exhibit more severe polydactyly than in Tulp3^hhkr homozygotes with seven or eight digits

Genotype
MGI:3842144

cx38

• Allelic Composition: Gli3^Xt-J/Gli3⁺; Tulp3^hhkr/Tulp3⁺
• Genetic Background: involves: C3H/HeH * C3H/HeJ * C57BL/6

limbs/digits/tail

polydactyly ( J:147584 )

• mice exhibit a single extra digit on most limbs

Genotype
MGI:4415141

cx39

• Allelic Composition: Gli3^TgBR/Gli3⁺; Scrib^Crc/Scrib^Crc
• Genetic Background: involves: C57BL/6J * NMRI

nervous system

abnormal innervation ( J:77245 )

• retinal axons project in circuitous, intersecting patterns across the retina before reaching the optic nerve head instead of a direct trajectory from their cell of origin toward the optic disk