Phenotypes associated with this allele

• Allele Symbol: Gbx2^tm1.1Mrt
• Allele Name: targeted mutation 1.1, Gail R Martin
• Allele ID: MGI:1857634
• Summary: 12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt	B6.129-Gbx2^tm1.1Mrt	MGI:3663465
hm2	Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt	either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2J) or (involves: 129S1/Sv * 129X1/SvJ * FVB/N)	MGI:2176961
hm3	Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt	involves: 129S1/Sv * 129X1/SvJ * Swiss Webster	MGI:3698553
ht4	Gbx2^tm1.1Mrt/Gbx2^tm1.2Alj	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ	MGI:5499542
ht5	Gbx2^tm1.1Mrt/Gbx2^tm1.1Alj	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * SJL	MGI:3790204
ht6	Gbx2^tm1.1(cre/ERT2)Jyhl/Gbx2^tm1.1Mrt	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * SJL	MGI:3840449
cn7	Gbx2^tm1.1(cre/ERT2)Jyhl/Gbx2^tm1.1Mrt Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * SJL	MGI:3840450
cn8	En1^tm2(cre)Wrst/En1^+ Gbx2^tm1.1Mrt/Gbx2^tm1.1Alj	involves: 129/Sv * C57BL/6 * SJL * Swiss Webster	MGI:3790208
cx9	Gbx2^tm1.1Mrt/Gbx2^+ Fgf8^tm1.4Mrt/Fgf8^+	B6.129-Gbx2^tm1.1Mrt Fgf8^tm1.4Mrt	MGI:3664073
cx10	Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt Fgf8^tm1.4Mrt/Fgf8^+	B6.129-Gbx2^tm1.1Mrt Fgf8^tm1.4Mrt	MGI:3664074
cx11	Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt Otx2^tm1Pas/Otx2^tm2Asim	involves: 129 * C57BL/6 * DBA/2	MGI:3845546
cx12	Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt Otx2^tm1(OTX1)Asim/Otx2^tm1(OTX1)Asim	involves: 129 * C57BL/6 * DBA/2	MGI:3845545

Genotype
MGI:3663465

hm1

• Allelic Composition: Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt
• Genetic Background: B6.129-Gbx2^tm1.1Mrt

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

mortality/aging

neonatal lethality, complete penetrance ( J:100584 )

• homozygotes survive to birth, but die soon afterwards

cardiovascular system

abnormal cardiovascular system morphology ( J:100584 )

• ~39% of homozygotes exhibit cardiovascular defects that affect development of the fourth PAAs and proper alignment of the conus (not observed in wild-type or heterozygous mice)

abnormal fourth pharyngeal arch artery morphology ( J:100584 )

• at E10.5, homozygotes show absence (nonpatent to ink) or hypoplasia of the left, right, or both fourth PAAs, with infrequent loss of the left sixth PAA and persistence of the right sixth PAA and descening aorta

• however, no defects in the development of the third PAA are observed, and initial pharyngeal arch segmentation appears unaffected

• at E10.5, endothelial cells are poorly organized in the mutant fourth PAA

abnormal aortic arch morphology ( J:100584 )

retroesophageal right subclavian artery ( J:100584 )

• 21% of homozygotes with cardiac defects exhibit a retroesophageal right subclavian artery

interrupted aortic arch, type b ( J:100584 )

• 26% of homozygotes with cardiac defects show interrupted aortic arch (IAA) type B, whereby the segment between the left common carotid artery and left subclavian artery is absent

right aortic arch ( J:100584 )

• 37% of homozygotes with cardiac defects display right aortic arch (RAA) with a right ductus arteriosus and persistence of the right descending aorta

abnormal vascular endothelial cell differentiation ( J:100584 )

• at E10.5, homozygotes show poor organization of endothelial cells in the fourth PAA

double outlet right ventricle ( J:100584 )

• 16% of homozygotes with cardiac defects display a double outlet right ventricle

overriding aortic valve ( J:100584 )

• 16% of homozygotes with cardiac defects exhibit an overriding aorta

perimembraneous ventricular septal defect ( J:100584 )

• mutant hearts with an overriding aorta display a mebraneous septal defect

• however, no VSDs are present in hearts with isolated arterial remodeling defects (IAA, RAA)

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:100584 )

• at E10.5, homozygotes show absence (nonpatent to ink) or hypoplasia of the left, right, or both fourth PAAs, with infrequent loss of the left sixth PAA and persistence of the right sixth PAA and descening aorta

• however, no defects in the development of the third PAA are observed, and initial pharyngeal arch segmentation appears unaffected

• at E10.5, endothelial cells are poorly organized in the mutant fourth PAA

abnormal styloid process morphology ( J:100584 )

• at E18.5, homozygotes display ectopic fusion of the styloid process with the base of the incus

styloid process hypoplasia ( J:100584 )

• at E18.5, 2 of 5 homozygotes display a severely hypoplastic styloid process

fusion of middle ear ossicles ( J:100584 )

• at E18.5, homozygotes display ectopic fusion of the styloid process with the base of the incus

middle ear ossicle hypoplasia ( J:100584 )

• at E18.5, 2 of 5 homozygotes display severely hypoplastic middle ear components, including the incus and malleus, as well as the styloid process and the stapes

cleft palate ( J:100584 )

• homozygotes infrequently exhibit a cleft palate

embryo

abnormal fourth pharyngeal arch artery morphology ( J:100584 )

• at E10.5, homozygotes show absence (nonpatent to ink) or hypoplasia of the left, right, or both fourth PAAs, with infrequent loss of the left sixth PAA and persistence of the right sixth PAA and descening aorta

• however, no defects in the development of the third PAA are observed, and initial pharyngeal arch segmentation appears unaffected

• at E10.5, endothelial cells are poorly organized in the mutant fourth PAA

abnormal neural crest cell migration ( J:100584 )

• at E9-E9.5, 4 of 6 homozygotes show significantly reduced migrating NCCs, esp. post-otic NCCs entering caudal pharyngeal arches (region of developing fourth PAAs)

abnormal neural crest cell morphology ( J:100584 )

• fourth PAA defects precede smooth muscle cell differentiation

decreased neural crest cell number ( J:100584 )

• at E10.5, NCCs are underrepresented in the mutant fourth PAAs

homeostasis/metabolism

cyanosis ( J:100584 )

• homozygous mutant pups appear cyanotic at birth

nervous system

abnormal neural crest cell morphology ( J:100584 )

• fourth PAA defects precede smooth muscle cell differentiation

decreased neural crest cell number ( J:100584 )

• at E10.5, NCCs are underrepresented in the mutant fourth PAAs

abnormal cerebellum morphology ( J:100584 )

• all homozygotes display cerebellar defects similar to those described in J:42110

abnormal innervation ( J:100584 )

• at E10.5, most homozygotes show ectopic projections between the trigeminal and the facial nerves

abnormal trigeminal ganglion morphology ( J:100584 )

• the mutant trigeminal ganglion is shifted ventrally directly behind the eye

fusion of glossopharyngeal and vagus nerve ( J:100584 )

• at E10.5, 3 of 4 homozygotes display fusion of the 9th (glossopharyngeal) and 10th (vagus) cranial nerves, just posterior to the otocyst

absent trigeminal nerve ( J:100584 )

hearing/vestibular/ear

fusion of middle ear ossicles ( J:100584 )

• at E18.5, homozygotes display ectopic fusion of the styloid process with the base of the incus

middle ear ossicle hypoplasia ( J:100584 )

• at E18.5, 2 of 5 homozygotes display severely hypoplastic middle ear components, including the incus and malleus, as well as the styloid process and the stapes

otic capsule hypoplasia ( J:100584 )

• at E18.5, all homozygotes exhibit a severely hypoplastic otic capsule

skeleton

abnormal styloid process morphology ( J:100584 )

• at E18.5, homozygotes display ectopic fusion of the styloid process with the base of the incus

styloid process hypoplasia ( J:100584 )

• at E18.5, 2 of 5 homozygotes display a severely hypoplastic styloid process

fusion of middle ear ossicles ( J:100584 )

• at E18.5, homozygotes display ectopic fusion of the styloid process with the base of the incus

middle ear ossicle hypoplasia ( J:100584 )

• at E18.5, 2 of 5 homozygotes display severely hypoplastic middle ear components, including the incus and malleus, as well as the styloid process and the stapes

digestive/alimentary system

cleft palate ( J:100584 )

• homozygotes infrequently exhibit a cleft palate

cellular

abnormal vascular endothelial cell differentiation ( J:100584 )

• at E10.5, homozygotes show poor organization of endothelial cells in the fourth PAA

abnormal neural crest cell migration ( J:100584 )

• at E9-E9.5, 4 of 6 homozygotes show significantly reduced migrating NCCs, esp. post-otic NCCs entering caudal pharyngeal arches (region of developing fourth PAAs)

growth/size/body

cleft palate ( J:100584 )

• homozygotes infrequently exhibit a cleft palate

Genotype
MGI:2176961

hm2

• Allelic Composition: Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2J) or (involves: 129S1/Sv * 129X1/SvJ * FVB/N)

mortality/aging

neonatal lethality, complete penetrance ( J:42110 )

• homozygotes are present at a normal Mendelian frequency at E18.5 but die soon after birth

nervous system

abnormal forebrain development ( J:42110 )

• some homozygotes display a severely abnormal forebrain development

abnormal midbrain development ( J:42110 )

• at E14.5, the normal thick to thin transition of neuroepithelium marking the mid/hindbrain junction is found caudal to its normal location, suggesting that the mutant posterior midbrain may extend caudally

• in addition, the mutant posterior midbrain exhibits aberrant A-P patterning

abnormal midbrain-hindbrain boundary morphology ( J:42110 )

• at E12.5, normal derivatives of the isthmus (isthmic nuclei; IV motor nucleus) and r1-3 (cerebellum, locus coeruleus, V motor nucleus) fail to develop

• however, no defects in brain or spinal cord derivatives of regions posterior to r3 are noted from E12.5 through P0

abnormal midbrain-hindbrain boundary development ( J:42110 )

• at E14.5-E16.5, the junction between the midbrain and developing cerebellum (isthmus) is more caudally positioned than normal

• at E9.5-E10.5, the neuroepithelium at the mid/hindbrain junction is abnormal on its posterior side

• by E9.5, the region between the posterior end of the midbrain and r4 (i.e. anterior hindbrain) is severely reduced in length

abnormal choroid plexus morphology ( J:42110 )

• at E14.5-E16.5, the developing choroid plexus appears to be fused to the amorphous tissue found in place of a normal cerebellum

• by E17.5-P0, the mutant choroid plexus is abnormally small and structurally underdeveloped

abnormal midbrain morphology ( J:42110 )

abnormal inferior colliculus morphology ( J:42110 )

• at E14.5, the inferior colliculus of the dorsal midbrain appears as a thickened, extended tissue that resembles the superior colliculus

abnormal hindbrain morphology ( J:42110 )

• at E9.5-E10.5, the anterior hindbrain is significantly reduced along the A-P axis and its ventral wall is morphologically abnormal

• at E9.5-E10.5, the neuroepithelium at the mid/hindbrain junction is abnormal on its posterior side

• anterior hindbrain defects can be traced back to an early stage of neuraxis development (at least E8.5) and are noted as early as E7.75

abnormal metencephalon morphology ( J:42110 )

• at E9.5-E10.5, the anterior hindbrain is significantly reduced along the A-P axis and its ventral wall is morphologically abnormal

• anterior hindbrain defects can be traced back to an early stage of neuraxis development (at least E8.5) and are noted as early as E7.75

abnormal cerebellum development ( J:42110 )

• at E12.5-E13.5, the region caudal to the midbrain that includes the cerebellar anlage is reduced in A-P length and appears disorganized

abnormal pons morphology ( J:42110 )

• at E17.5-P0, the wall of the rostral pontine region is unusually thin, with abnormal architecture

abnormal locus ceruleus morphology ( J:42110 )

• at E14.5-E16.5, the locus coeruleus, which is derived from r1, is absent

absent cerebellum ( J:42110 )

• at E14.5-E16.5, all homozygotes exhibit a reduced and morphologically abnormal structure in place of a developing cerebellum

• by E17.5-P0, homozygotes display a small amorphous tissue of variable size and morphology instead of a normal cerebellum in the anterior hindbrain

abnormal motor neuron morphology ( J:42110 )

• at E14.5-E16.5, the IV motor nucleus and V motor nucleus, which are derived from the isthmus and r2/r3, respectively, are absent

• in contrast, the III motor nucleus in the midbrain, and the VII motor nucleus, which forms in r4/r5 and then migrates to r6 are present and appear normal

hearing/vestibular/ear

small otic vesicle ( J:42110 )

• at E9.5-E10.5, mutant otocysts are smaller and laterally displaced, in abnormal proximity to the midbrain

abnormal membranous labyrinth morphology ( J:42110 )

• some mutant embryos exhibit abnormal development of the dorsal membranous labyrinth

craniofacial

absent supraoccipital bone ( J:42110 )

• some mutant embryos show a significantly reduced or absent supraoccipital bone

skeleton

absent supraoccipital bone ( J:42110 )

• some mutant embryos show a significantly reduced or absent supraoccipital bone

Genotype
MGI:3698553

hm3

• Allelic Composition: Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss Webster

hearing/vestibular/ear

small otic vesicle ( J:98487 )

• at E9 to E9.5, some homozygotes display a reduced otocyst size

abnormal inner ear morphology ( J:98487 )

• at E15.5, homozygotes display variable inner ear phenotypes divided into four categories, with increasing severity from Type I to IV

• Type I homozygotes exhibit an enlarged membranous labyrinth which lacks the endolymphatic duct in 3/4 cases

• Type II homozygotes show absence of both the endolymphatic duct (7/7) and common crus (5/7); the utricle and saccule are not easily discernible, and the cochlear duct is shortened

• Type III homozygotes lack the anterior and posterior canals and show less than one coil, in addition to phenotypes described for Type II

• Type IV homozygotes display a cystic inner ear with only a lateral canal and ampulla in 3/5 cases

• in 8 of 10 cases, the two ears of a given specimen usually display similar phenotypes

inner ear cyst ( J:98487 )

• Type IV (i.e most severely affected) homozygotes exhibit cystic inner ears without any discernible structures except for the presence of a lateral canal in some cases (3/5)

abnormal cochlear sensory epithelium morphology ( J:98487 )

decreased cochlea coiling ( J:98487 )

• at E15.5, Type III homozygotes exhibit less than one coil

absent common crus ( J:98487 )

• overall, 68% (13 of 19) homozygotes lack a common crus (that is, five Type II, three Type III and five Type IV mutants)

absent lateral semicircular canal ( J:98487 )

• overall, 11% (2 of 19) homozygotes lack a lateral canal and ampulla (only Type IV mutants)

absent posterior semicircular canal ( J:98487 )

• overall, 42% (8 of 19) homozygotes lack a posterior canal (that is, three Type III and five Type IV mutants)

• overall, 21% (4 of 19) homozygotes lack an anterior ampulla (that is, one Type III and three Type IV mutants)

abnormal crista ampullaris morphology ( J:98487 )

• at E15.5, anterior and posterior cristae are generally present, except in some of Type IV specimens

absent superior semicircular canal ( J:98487 )

• overall, 42% (8 of 19) homozygotes lack an anterior canal (that is, three Type III and five Type IV mutants)

• overall, 21% (4 of 19) homozygotes lack an anterior ampulla (that is, one Type III and three Type IV mutants)

abnormal membranous labyrinth morphology ( J:98487 )

• overall, 18 of 19 homozygous mutant inner ears display an enlarged membranous labyrinth at E15.5

abnormal organ of Corti morphology ( J:98487 )

• at E15.5, the organ of Corti is severely affected in most mutants, with only one or two small sensory patches even in Type II mice

absent scala media ( J:98487 )

• overall, 26% (5 of 19) homozygotes lack a cochlear duct (only Type IV mutants)

• absence of cochlear duct extension is evident by E11.5

abnormal vestibular saccular macula morphology ( J:98487 )

• at E15.5, the saccular maccula is severely affected in most mutants, with no discernible sensory patches even in Type II mice

absent vestibular saccule ( J:98487 )

• overall, 42% (8 of 19) homozygotes lack a saccule (that is, one Type I, one Type II, two Type III and four Type IV mutants)

absent endolymphatic duct ( J:98487 )

• overall, 95% (18 of 19) homozygous mutant inner ears lack an endolymphatic duct at E15.5

• absence of the endolymphatic duct is also noted at E11.5

nervous system

abnormal hindbrain development ( J:98487 )

• the anterior hindbrain rostral to r4 is missing and is replaced by an ill-defined zone with aberrant gene expression patterns

• in addition, development of the caudal hindbrain is disrupted, as shown by changes in gene expression patterns caudal to r3

abnormal rhombomere 5 morphology ( J:98487 )

• at E9 to E9.5, r5 is abnormal based on gene expression patterns

abnormal metencephalon morphology ( J:98487 )

• the anterior hindbrain rostral to r4 is missing and is replaced by an ill-defined zone with aberrant gene expression patterns

abnormal cochlear ganglion morphology ( J:98487 )

• at E15.5, the spiral ganglion is present in most Type II specimens (2/3) but missing in 2/2 Type IV specimens

• TUNEL analysis indicates elevated apoptosis in the cochleo-vestibular ganglion at E9.5-E10.5

absent cochlear ganglion ( J:98487 )

• missing in 2/2 Type IV specimens

embryo

abnormal rhombomere 5 morphology ( J:98487 )

• at E9 to E9.5, r5 is abnormal based on gene expression patterns

growth/size/body

inner ear cyst ( J:98487 )

• Type IV (i.e most severely affected) homozygotes exhibit cystic inner ears without any discernible structures except for the presence of a lateral canal in some cases (3/5)

Genotype
MGI:5499542

ht4

• Allelic Composition: Gbx2^tm1.1Mrt/Gbx2^tm1.2Alj
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ

mortality/aging

preweaning lethality, complete penetrance ( J:79431 )

nervous system

abnormal nervous system morphology ( J:79431 )

• authors state that mice resemble Gbx2^tm1.1Mrt homozygotes at E18.5

cardiovascular system

abnormal cardiovascular system morphology ( J:79431 )

• authors state that mice resemble Gbx2^tm1.1Mrt homozygotes at E18.5

skeleton

abnormal skeleton morphology ( J:79431 )

• authors state that mice resemble Gbx2^tm1.1Mrt homozygotes at E18.5

Genotype
MGI:3790204

ht5

• Allelic Composition: Gbx2^tm1.1Mrt/Gbx2^tm1.1Alj
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:79431 )

• no abnormal phenotypes are observed in homozygous mice

Genotype
MGI:3840449

ht6

• Allelic Composition: Gbx2^{tm1.1(cre/ERT2)Jyhl}/Gbx2^tm1.1Mrt
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * SJL

nervous system

absent cerebellum ( J:147282 )

• at E18.5

Genotype
MGI:3840450

cn7

• Allelic Composition: Gbx2^{tm1.1(cre/ERT2)Jyhl}/Gbx2^tm1.1Mrt; Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * SJL

nervous system

abnormal telencephalon development ( J:147282 )

• at E14.5, cells expressing lacZ are found across the dorsal and posterior borders of the thalamus expanding into the epithalamus and pretectum

• ectopic lacZ expressing cells from the thalamus are mainly found in the lateral habenular nuclei and anterior part of the pretectum at E18.5

abnormal thalamus morphology ( J:147282 )

• at E10.5 the thalamus is smaller in the mediolateral dimension and larger in the ventrodorsal dimension

• thalamus morphology is severely disrupted after E14.5

Genotype
MGI:3790208

cn8

• Allelic Composition: En1^tm2(cre)Wrst/En1⁺; Gbx2^tm1.1Mrt/Gbx2^tm1.1Alj
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL * Swiss Webster

mortality/aging

mortality/aging ( J:79431 )

N • more than half of the mice survive past weaning, are fertile and nurture their offspring normally

postnatal lethality, incomplete penetrance ( J:79431 )

• some mutants are found dead prior to weaning age

growth/size/body

decreased body weight ( J:79431 )

• surviving mutants weigh less than wild-type littermates

abnormal postnatal growth ( J:79431 )

• surviving mutants (adults) are smaller than littermates

nervous system

nervous system phenotype ( J:79431 )

N • cerebellar hemisphere development and cytoarchitecture of cerebellum are essentially normal

decreased embryonic neuroepithelium thickness ( J:79431 )

• at E12.5, neuroepithelium of medial cerebellar anlage is thinner than in wild-type with abnormal indents found in the ventricular layer

abnormal cerebellum development ( J:79431 )

• at E10.5, mesencephalon is expanded caudally and alar plate of r1 is significantly reduced

• medial region of cerebellar primordium is reduced in size from E12.5 to 18.5

• increased cell proliferation is observed in indents into ventricular layer, resulting in small cell aggregates in ventricular layer at E14.5; large cell aggregates are observed in medial cerebella of mutants at E18.5

• however, no cell aggregates are seen in cerebella of 8-week old mutants

abnormal cerebellar foliation ( J:79431 )

• foliation pattern is disrupted in adults

• in adult mutants all lobules are reduced in size to varying extents with lobules V and IX less affected

abnormal midbrain development ( J:79431 )

• at E10.5, the mesencephalon is expanded caudally

abnormal midbrain-hindbrain boundary morphology ( J:79431 )

• at E9.5, isthmic constriction dividing the mesencephalon and rhombomere 1 (r1) at dorsal midline is less prominent than in wild-type

increased inferior colliculus size ( J:79431 )

cerebellum vermis hypoplasia ( J:79431 )

decreased embryonic neuroepithelial cell proliferation ( J:79431 )

• proliferation in the medial region of the cerebellum is reduced compared to wild-type

embryo

decreased embryonic neuroepithelium thickness ( J:79431 )

• at E12.5, neuroepithelium of medial cerebellar anlage is thinner than in wild-type with abnormal indents found in the ventricular layer

Genotype
MGI:3664073

cx9

• Allelic Composition: Gbx2^tm1.1Mrt/Gbx2⁺; Fgf8^tm1.4Mrt/Fgf8⁺
• Genetic Background: B6.129-Gbx2^tm1.1Mrt Fgf8^tm1.4Mrt

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:100584 )

• ~16% of double heterozygotes exhibit PAA-related cardiovascular defects vs 0% in single Gbx2^tm1Mrt or Fgf8^tm1.4Mrt heterozygotes

• however, no incidences of a double outlet right ventricle, an overriding aorta or a retroesophageal right subclavian artery are observed

retroesophageal right subclavian artery ( J:100584 )

• 20% of double heterozygotes with cardiovascular defects display a retroesophageal right subclavian artery

right aortic arch ( J:100584 )

• 80% of double heterozygotes with cardiovascular defects exhibit a right aortic arch

craniofacial

abnormal pharyngeal arch artery morphology ( J:100584 )

• ~16% of double heterozygotes exhibit PAA-related cardiovascular defects vs 0% in single Gbx2^tm1Mrt or Fgf8^tm1.4Mrt heterozygotes

• however, no incidences of a double outlet right ventricle, an overriding aorta or a retroesophageal right subclavian artery are observed

embryo

abnormal pharyngeal arch artery morphology ( J:100584 )

• ~16% of double heterozygotes exhibit PAA-related cardiovascular defects vs 0% in single Gbx2^tm1Mrt or Fgf8^tm1.4Mrt heterozygotes

• however, no incidences of a double outlet right ventricle, an overriding aorta or a retroesophageal right subclavian artery are observed

Genotype
MGI:3664074

cx10

• Allelic Composition: Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt; Fgf8^tm1.4Mrt/Fgf8⁺
• Genetic Background: B6.129-Gbx2^tm1.1Mrt Fgf8^tm1.4Mrt

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:100584 )

• mutant mice exhibit a significantly increased frequency, but not severity, of PAA-related cardiovascular defects relative to single Gbx2^tm1Mrt homozygotes (86% vs 39%, respectively)

• however, no incidences of a double outlet right ventricle or an overriding aorta are observed

retroesophageal right subclavian artery ( J:100584 )

• 16.6% of mutant mice with cardiovascular defects exhibit a retroesophageal right subclavian artery vs 21% of single Gbx2^tm1Mrt homozygotes

interrupted aortic arch, type b ( J:100584 )

• 25% of mutant mice with cardiovascular defects exhibit an interrupted aortic arch (IAA) type B vs 26% of single Gbx2^tm1Mrt homozygotes

right aortic arch ( J:100584 )

• 58.3% of mutant mice with cardiovascular defects exhibit a right aortic arch (RAA) vs 37% of single Gbx2^tm1Mrt homozygotes

hematopoietic system

abnormal thymus development ( J:100584 )

• ~29% of mutant mice exhibit abnormal thymus development, either as a single-lobed thymus or as an overall reduction in thymus size (not observed in single Gbx2^tm1Mrt homozygotes or Fgf8^tm1.4Mrt heterozygotes)

immune system

abnormal thymus development ( J:100584 )

• ~29% of mutant mice exhibit abnormal thymus development, either as a single-lobed thymus or as an overall reduction in thymus size (not observed in single Gbx2^tm1Mrt homozygotes or Fgf8^tm1.4Mrt heterozygotes)

craniofacial

abnormal pharyngeal arch artery morphology ( J:100584 )

• mutant mice exhibit a significantly increased frequency, but not severity, of PAA-related cardiovascular defects relative to single Gbx2^tm1Mrt homozygotes (86% vs 39%, respectively)

• however, no incidences of a double outlet right ventricle or an overriding aorta are observed

small mandible ( J:100584 )

• a few mutant mice display a reduced mandible

small ears ( J:100584 )

• a few mutant mice exhibit small external ears

hearing/vestibular/ear

small ears ( J:100584 )

• a few mutant mice exhibit small external ears

skeleton

small mandible ( J:100584 )

• a few mutant mice display a reduced mandible

embryo

abnormal pharyngeal arch artery morphology ( J:100584 )

• mutant mice exhibit a significantly increased frequency, but not severity, of PAA-related cardiovascular defects relative to single Gbx2^tm1Mrt homozygotes (86% vs 39%, respectively)

• however, no incidences of a double outlet right ventricle or an overriding aorta are observed

abnormal neural crest cell migration ( J:100584 )

• at E9.5, mutant mice display a NCC migratory patterning defect similar to that of single Gbx2^tm1Mrt homozygotes

cellular

abnormal neural crest cell migration ( J:100584 )

• at E9.5, mutant mice display a NCC migratory patterning defect similar to that of single Gbx2^tm1Mrt homozygotes

endocrine/exocrine glands

abnormal thymus development ( J:100584 )

• ~29% of mutant mice exhibit abnormal thymus development, either as a single-lobed thymus or as an overall reduction in thymus size (not observed in single Gbx2^tm1Mrt homozygotes or Fgf8^tm1.4Mrt heterozygotes)

growth/size/body

small ears ( J:100584 )

• a few mutant mice exhibit small external ears

Genotype
MGI:3845546

cx11

• Allelic Composition: Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt; Otx2^tm1Pas/Otx2^tm2Asim
• Genetic Background: involves: 129 * C57BL/6 * DBA/2

mortality/aging

mortality/aging ( J:72725 )

N • mice are viable at E10.5

nervous system

abnormal brain development ( J:72725 )

• brain development is compromised

• however, mice exhibit rescue of the anterior defects observed in Otx2^{tm1(OTX1)Asim}/Otx2^tm1Pas heterozygotes

cardiovascular system

cardiovascular system phenotype ( J:72725 )

N • heart development is normal

growth/size/body

abnormal head development ( J:72725 )

• head development is compromised

Genotype
MGI:3845545

cx12

• Allelic Composition: Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt; Otx2^{tm1(OTX1)Asim}/Otx2^{tm1(OTX1)Asim}
• Genetic Background: involves: 129 * C57BL/6 * DBA/2

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:72725 )

• although present at E9.5, no mice are detected at E10 to E10.5

nervous system

abnormal neural plate morphology ( J:72725 )

• at E9.7, mice fail to exhibit regionalization of the anterior neural plate unlike wild-type mice

• at E9.7, the distance between the otic vesicle and the rostral tip of the embryo is greater than in wild-type embryos

abnormal neural tube morphology ( J:72725 )

abnormal embryonic neuroepithelium morphology ( J:72725 )

• at E9.7, the anterior neuroectoderm is abnormal

absent embryonic telencephalon ( J:72725 )

• at E9.7, telencephalic vesicles are not recognizable

absent midbrain-hindbrain boundary ( J:72725 )

• at E9.7, the isthmic constriction is not recognizable

exencephaly ( J:72725 )

cardiovascular system

abnormal heart morphology ( J:72725 )

• at E9.7

dilated heart ( J:72725 )

• at E9.7

embryo

absent pharyngeal arches ( J:72725 )

• at E9.7

decreased embryo size ( J:72725 )

abnormal neural plate morphology ( J:72725 )

• at E9.7, mice fail to exhibit regionalization of the anterior neural plate unlike wild-type mice

• at E9.7, the distance between the otic vesicle and the rostral tip of the embryo is greater than in wild-type embryos

abnormal neural tube morphology ( J:72725 )

abnormal embryonic neuroepithelium morphology ( J:72725 )

• at E9.7, the anterior neuroectoderm is abnormal

craniofacial

absent nasal placodes ( J:72725 )

• at E9.7

absent pharyngeal arches ( J:72725 )

• at E9.7

growth/size/body

decreased embryo size ( J:72725 )

respiratory system

absent nasal placodes ( J:72725 )

• at E9.7

taste/olfaction

absent nasal placodes ( J:72725 )

• at E9.7

vision/eye

absent optic placodes ( J:72725 )

• at E9.7, the optic placodes are absent

absent optic vesicle ( J:72725 )

• at E9.7, optic vesicles are not recognizable