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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(Hlxb9-GFP)1Tmj
transgene insertion 1, Thomas M Jessell
MGI:3056906
Summary 32 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Epha4tm1.1Bzh/Epha4tm1.1Bzh
Isl1tm1(cre)Sev/Isl1+
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S/Sv * Black Swiss * C57BL/6J * CD-1 * FVB/N MGI:6406420
cn2
Epha4tm1.1Bzh/Epha4tm1.1Bzh
Tg(Hlxb9-GFP)1Tmj/0
Twist2tm1(cre)Dor/Twist2+
involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N MGI:6406424
cx3
Col25a1tm1.1Tiwa/Col25a1tm1.1Tiwa
Tg(Hlxb9-GFP)1Tmj/0
B6.Cg-Col25a1tm1.1Tiwa Tg(Hlxb9-GFP)1Tmj MGI:5781122
cx4
Gli3Xt/?
Kif7maki/Kif7maki
Tg(Hlxb9-GFP)1Tmj/?
involves: 101/H * C3H/HeH * C57BL/6J * CBA/H * FVB/N MGI:4355989
cx5
Clp1tm1.1Pngr/Clp1tm1.1Pngr
Tg(Hlxb9-GFP)1Tmj/0
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA MGI:5554935
cx6
Baxtm1Sjk/Baxtm1Sjk
Chn1tm1.1Ece/Chn1tm1.1Ece
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J MGI:6406403
cx7
Chn1tm1.1Ece/Chn1+
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J MGI:6406395
cx8
Chn1tm1.1Ece/Chn1tm1.1Ece
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J MGI:6406385
cx9
Chn1tm1.2Ece/Chn1tm1.2Ece
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J MGI:6406400
cx10
Ecel1tm1Hiki/Ecel1tm1Hiki
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:6160055
cx11
Gli2tm1Alj/Gli2tm1Alj
Kif7maki/Kif7maki
Tg(Hlxb9-GFP)1Tmj/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N MGI:4355988
cx12
Kif7maki/Kif7maki
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Hlxb9-GFP)1Tmj/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N MGI:4355990
cx13
Bmpr2tm1Kmi/Bmpr2+
Ark2cGt(P9-3F)Sor/Ark2c+
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S4/SvJae * C57BL/6 * CBA MGI:5516589
cx14
Mir34atm1.1Aven/Mir34atm1.1Aven
Mirc21tm1.1Aven/Mirc21tm1.1Aven
Mirc34em1Jnch/Mirc34em1Jnch
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S4/SvJae * C57BL/6 * CBA * FVB/N MGI:6696405
cx15
Ark2cGt(P9-3F)Sor/Ark2cGt(P9-3F)Sor
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S4/SvJaeSor * C57BL/6 * CBA MGI:5516588
cx16
Islr2tm1.1Ddg/Islr2tm1.1Ddg
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S6/SvEvTac * BALB/cJ * C57BL/6 * CBA MGI:4413454
cx17
Epha4tm1.2Bzh/Epha4tm1.2Bzh
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N MGI:6406414
cx18
Chn1tm1.2Ece/Chn1tm1.2Ece
Epha4tm1.2Bzh/Epha4tm1.2Bzh
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N MGI:6406415
cx19
Chn1tm1.2Ece/Chn1+
Epha4tm1.2Bzh/Epha4tm1.2Bzh
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N MGI:6406417
cx20
Chn1tm1.1Ece/Chn1tm1.1Ece
Epha4tm1.2Bzh/Epha4tm1.2Bzh
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N MGI:6406444
cx21
Ark2cGt(P9-3F)Sor/Ark2c+
Smad9tm1Rob/Smad9tm1Rob
Tg(Hlxb9-GFP)1Tmj/0
involves: 129S/SvEv * C57BL/6 * CBA MGI:5516590
cx22
Gdpd5tm1.1Itl/Gdpd5tm1.1Itl
Tg(Hlxb9-GFP)1Tmj/0
involves: 129/Sv * C57BL/6 * C57BL/6J * CBA MGI:5302061
cx23
Egr3tm1Jmi/Egr3tm1Jmi
Gfra1tm3Jmi/Gfra1+
Tg(Hlxb9-GFP)1Tmj/0
involves: 129X1/SvJ * C57BL/6 * SJL MGI:4456172
cx24
Cpeb4tm1a(EUCOMM)Wtsi/Cpeb4tm1a(EUCOMM)Wtsi
Tg(Hlxb9-GFP)1Tmj/0
involves: C57BL/6 * C57BL/6J * C57BL/6NTac MGI:5882128
cx25
Tardbptm3.1Ckjs/Tardbp+
Tg(Hlxb9-GFP)1Tmj/0
involves: C57BL/6 * C57BL/6J * CBA MGI:6404639
cx26
Ecel1em2Hiki/Ecel1em2Hiki
Tg(Hlxb9-GFP)1Tmj/0
involves: C57BL/6 * CBA MGI:6160086
cx27
Ecel1em1Hiki/Ecel1em1Hiki
Tg(Hlxb9-GFP)1Tmj/0
involves: C57BL/6 * CBA MGI:6160009
cx28
Kif7maki/Kif7maki
Tg(Hlxb9-GFP)1Tmj/?
involves: C57BL/6J * FVB/N MGI:4355986
cx29
Dync2h1mmi/Dync2h1mmi
Tg(Hlxb9-GFP)1Tmj/?
involves: C57BL/6J * FVB/N MGI:4355994
cx30
Dync2h1mmi/Dync2h1mmi
Kif7maki/Kif7maki
Tg(Hlxb9-GFP)1Tmj/?
involves: C57BL/6J * FVB/N MGI:4355992
cx31
Ift172wim/Ift172wim
Kif7maki/Kif7maki
Tg(Hlxb9-GFP)1Tmj/?
involves: C57BL/6J * FVB/N MGI:4355991
cx32
Kif7maki/Kif7maki
Smobnb/Smobnb
Tg(Hlxb9-GFP)1Tmj/?
involves: C57BL/6J * FVB/N MGI:4355987


Genotype
MGI:6406420
cn1
Allelic
Composition
Epha4tm1.1Bzh/Epha4tm1.1Bzh
Isl1tm1(cre)Sev/Isl1+
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S/Sv * Black Swiss * C57BL/6J * CD-1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epha4tm1.1Bzh mutation (1 available); any Epha4 mutation (67 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (36 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• embryos show an increase in the number of abducens nerve bundles following exit from the hindbrain, reductions in both abducens nerve length and diameter at the orbit and larger wandering abducens nerve bundles that exhibit enhanced nerve pausing at the midpoint decision within the abducens fasciculation region
• however, trochlear nerve and first cervical spine projections are normal
• abducens nerve length is reduced and nerve diameter is thinner near the orbit in embryos




Genotype
MGI:6406424
cn2
Allelic
Composition
Epha4tm1.1Bzh/Epha4tm1.1Bzh
Tg(Hlxb9-GFP)1Tmj/0
Twist2tm1(cre)Dor/Twist2+
Genetic
Background
involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epha4tm1.1Bzh mutation (1 available); any Epha4 mutation (67 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• the abducens nerve exits the hindbrain with fewer nerve bundles, which initially wander in the mesenchymal area adjacent to the hindbrain exit before completely stalling in the mesenchyme leading to a reduction in abducens length and complete lack of both abducens innervation near the orbit and aberrant tracking with the facial nerve
• however, trochlear nerve and first cervical spine projections are normal




Genotype
MGI:5781122
cx3
Allelic
Composition
Col25a1tm1.1Tiwa/Col25a1tm1.1Tiwa
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
B6.Cg-Col25a1tm1.1Tiwa Tg(Hlxb9-GFP)1Tmj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col25a1tm1.1Tiwa mutation (0 available); any Col25a1 mutation (46 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• progressive loss of post-mitotic motor neurons by apoptosis
• in the medial and lateral motor columns of the brachial spinal cord at E13.5
• few neurons remain at E14.5
• despite numbers at E11.5, mice exhibit fewer motor neurons in the upper cervical, thoracic and lumbosacral spinal cord compared with wild-type mice
• at E12.5, terminal arborization is severely disturbed compare with wild-type mice
• at E13.5, the main nerve trunk is thinner compared with wild-type mice
• while the phrenic nerve axon bundle makes contact with the diaphragm, no branches emanate from the main nerve trunk with signs of withdrawal unlike in wild-type mice
• acetylcholine receptor (AChR) clusters fail to mature unlike in wild-type mice
• however, pre-patterned AChR clusters are present on myotubes

cellular
• progressive loss of post-mitotic motor neurons by apoptosis




Genotype
MGI:4355989
cx4
Allelic
Composition
Gli3Xt/?
Kif7maki/Kif7maki
Tg(Hlxb9-GFP)1Tmj/?
Genetic
Background
involves: 101/H * C3H/HeH * C57BL/6J * CBA/H * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli3Xt mutation (1 available); any Gli3 mutation (81 available)
Kif7maki mutation (0 available); any Kif7 mutation (40 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• expansion of the ventral neural cell types is increased compared to Kif7 single mutants

embryo
• expansion of the ventral neural cell types is increased compared to Kif7 single mutants




Genotype
MGI:5554935
cx5
Allelic
Composition
Clp1tm1.1Pngr/Clp1tm1.1Pngr
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clp1tm1.1Pngr mutation (0 available); any Clp1 mutation (22 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• reduced GFP+ neurons at E18.5




Genotype
MGI:6406403
cx6
Allelic
Composition
Baxtm1Sjk/Baxtm1Sjk
Chn1tm1.1Ece/Chn1tm1.1Ece
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Baxtm1Sjk mutation (1 available); any Bax mutation (24 available)
Chn1tm1.1Ece mutation (0 available); any Chn1 mutation (44 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• abducens nerve stalling to the lateral rectus is seen at E11.5 and E16.5 mutants lack abducens nerves in the orbital area
• E16.5 mutants show oculomotor misinnervation of the lateral rectus




Genotype
MGI:6406395
cx7
Allelic
Composition
Chn1tm1.1Ece/Chn1+
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chn1tm1.1Ece mutation (0 available); any Chn1 mutation (44 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 61.3% penetrance of unilateral or bilateral globe retraction

nervous system
• 21% reduction in abducens nerve exiting bundles from its hindbrain exit to the orbit at E11.5
• embryos show an absence or thinning of the abducens nerve at the primitive extraocular muscle anlage at the orbit, as seen by a reduction in abducens nerve diameter near the orbit




Genotype
MGI:6406385
cx8
Allelic
Composition
Chn1tm1.1Ece/Chn1tm1.1Ece
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chn1tm1.1Ece mutation (0 available); any Chn1 mutation (44 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 71.8% penetrance of unilateral or bilateral globe retraction

nervous system
• the abducens nerve has fewer hindbrain exiting bundles that are over-fasciculated in the hindbrain
• the abducens nerve has fewer hindbrain exiting bundles (30% reduction) that are over-fasciculated in the hindbrain and stalled with variable penetrance midway between the hindbrain and orbit at E11.5
• stalled abducens nerve bundles do not reach the orbit, resulting in secondary aberrant misinnervation of the lateral rectus muscle by the oculomotor nerve
• E11.5 embryos show errors in trochlear nerve projections; trochlear axons cross the midline and exit dorsally as in wild-type embryos, but the axons form multiple fascicles instead of one nerve bundle, most of which extend appropriately toward the contralateral orbit, but some turn back and misproject toward the ipsilateral orbit
• in E11.5 embryos, the first cervical spine nerve exits the brainstem appropriately, but turns dorsally toward the dermomyotome with variable bilateral penetrance
• embryos show an absence or thinning of the abducens nerve at the primitive extraocular muscles anlage at the orbit, as seen by a reduction in abducens nerve diameter near the orbit

cellular
• the abducens nerve has fewer hindbrain exiting bundles that are over-fasciculated in the hindbrain

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Duane retraction syndrome DOID:12557 OMIM:126800
OMIM:604356
J:243785




Genotype
MGI:6406400
cx9
Allelic
Composition
Chn1tm1.2Ece/Chn1tm1.2Ece
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chn1tm1.2Ece mutation (0 available); any Chn1 mutation (44 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• abducens nerve exits with an increased number of defasciculated bundles within the hindbrain, some of which wander dorsally toward the hindbrain or ventrally to track along the developing buccal branch of the facial nerve
• however, a subset of abducens nerve bundles successfully fasciculate within the midway between the hindbrain and orbit and innervate the extraocular muscle anlage at the orbit
• trochlear nerve and first spine projections are unaffected
• abducens nerve diameter is greater
• however, abducens nerve length is normal

vision/eye
N
• mice do not exhibit globe retraction and do not have Duane retraction syndrome




Genotype
MGI:6160055
cx10
Allelic
Composition
Ecel1tm1Hiki/Ecel1tm1Hiki
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ecel1tm1Hiki mutation (0 available); any Ecel1 mutation (41 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• while most motor nerves reach muscles, their fine branches are poorly arborized
• in the hip, thigh, and lower leg, the number of motor nerve terminals is reduced to over half of the muscles and is dramatically reduced in the lateral, middle, and medial muscles of the foot
• however, the width of motor nerves (the gracilis motor nerve) and the number of individual axons within motor nerves are normal
• motor nerves exhibit impaired axonal arborization in skeletal muscles in the forelimbs and hindlimbs, first seen around E12.5-E13.5
• axonal arborization defect in foot muscles is more severe than in other hindlimb muscles, with almost all fine branches absent in the E17.5 lateral, medial and medial muscles of the foot
• axonal arborization defects are more severe at the most distal part of the limb compared with proximal regions
• however, motor nerves exhibit normal trajectory patterns from the spinal cord to skeletal muscles and motor nerves develop a normal number of fine branches in some muscles such as vastus lateralis and biceps femoris
• early phase of axonal outgrowth is not affected
• the number of neuromuscular junctions is reduced in the gracilis anterior muscle
• number of innervated neuromuscular junctions is reduced in severely affected muscle

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
distal arthrogryposis DOID:0050646 OMIM:PS108120
J:262090




Genotype
MGI:4355988
cx11
Allelic
Composition
Gli2tm1Alj/Gli2tm1Alj
Kif7maki/Kif7maki
Tg(Hlxb9-GFP)1Tmj/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli2tm1Alj mutation (0 available); any Gli2 mutation (169 available)
Kif7maki mutation (0 available); any Kif7 mutation (40 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• unlike in Kif7 single mutants, in compound mutants the motor neuron domain is not expanded dorsally and the Nkx2.2+ domain is absent

embryo
• unlike in Kif7 single mutants, in compound mutants the motor neuron domain is not expanded dorsally and the Nkx2.2+ domain is absent




Genotype
MGI:4355990
cx12
Allelic
Composition
Kif7maki/Kif7maki
Ptch1tm1Mps/Ptch1tm1Mps
Tg(Hlxb9-GFP)1Tmj/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif7maki mutation (0 available); any Kif7 mutation (40 available)
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (115 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• compound mutants develop until E10.5, unlike Ptch1 single mutants that arrest at about E9.0

nervous system
• ventral cell types are expanded to encompass about 3/4 of the neural plate
• this expansion is less than that seen in Ptch1 single mutants

embryo
• ventral cell types are expanded to encompass about 3/4 of the neural plate
• this expansion is less than that seen in Ptch1 single mutants




Genotype
MGI:5516589
cx13
Allelic
Composition
Bmpr2tm1Kmi/Bmpr2+
Ark2cGt(P9-3F)Sor/Ark2c+
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ark2cGt(P9-3F)Sor mutation (0 available); any Ark2c mutation (11 available)
Bmpr2tm1Kmi mutation (0 available); any Bmpr2 mutation (46 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are born
• however, all born mice survive to adulthood

nervous system
• some mice exhibit innervation defects in the dorsal forelimb

behavior/neurological
• some mice exhibit reduced hang time from a cage lid compared with wild-type mice




Genotype
MGI:6696405
cx14
Allelic
Composition
Mir34atm1.1Aven/Mir34atm1.1Aven
Mirc21tm1.1Aven/Mirc21tm1.1Aven
Mirc34em1Jnch/Mirc34em1Jnch
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * CBA * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mir34atm1.1Aven mutation (0 available); any Mir34a mutation (9 available)
Mirc21tm1.1Aven mutation (1 available); any Mirc21 mutation (5 available)
Mirc34em1Jnch mutation (0 available); any Mirc34 mutation (1 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal motor neuron development




Genotype
MGI:5516588
cx15
Allelic
Composition
Ark2cGt(P9-3F)Sor/Ark2cGt(P9-3F)Sor
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ark2cGt(P9-3F)Sor mutation (0 available); any Ark2c mutation (11 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die within the first 3 postnatal weeks
• however, some mice survive beyond weaning one an unspecified mixed background

nervous system
N
• lateral motor column specification is normal
• at E11.5, more dorsal radial and median nerves are reduced in length and width without compensatory increase in the size of the more ventral ulnar or thoracodorsal nerves compared to in wild-type mice
• at E12.5, radial nerves are thin and axons do not reach the more distal dorsal target muscles
• impaired motor axon extension in the dorsal forelimb
• however, no misrouting is observed
• at E13.5, mice exhibit dorsal muscle innervation to varying degrees with increased severity towards the distal muscles controlling digits compared with wild-type mice
• however, forelimb innervation at E11.5 is normal
• increased phrenic nerve synapses with reduced synaptic band width within the diaphragm at E18.5
• reduced individual axon length form the phrenic nerve to the synapse at E18 and P17

homeostasis/metabolism
• increased serum lactate levels in mice on a mixed background that survive beyond weaning
• mild in postnatal mice at death
• in postnatal mice at death
• mild in mice on a mixed background that survive beyond weaning

growth/size/body
• mice are thin
• 50% of normal at P15
• however, body size is normal at E18.5
• newborns fail to grow and thrive

limbs/digits/tail
• reduced mean foot length due to reduced tor extension
• atrophy of forelimb muscles that control forepaw and digit movement

behavior/neurological
• empty stomach and gut in postnatal mice at death
• reduced hang time from a cage lid

muscle
• bilateral atrophy of forelimb muscles that control forepaw and digit movement

cellular
• at E11.5, more dorsal radial and median nerves are reduced in length and width without compensatory increase in the size of the more ventral ulnar or thoracodorsal nerves compared to in wild-type mice
• at E12.5, radial nerves are thin and axons do not reach the more distal dorsal target muscles
• impaired motor axon extension in the dorsal forelimb
• however, no misrouting is observed

skeleton
• mice are born with relaxed forepaws and reduced dorsioflexion
• at P21 and 3 to 6 months, mice on an unspecified mixed background are unable to extend and spread forepaw digits




Genotype
MGI:4413454
cx16
Allelic
Composition
Islr2tm1.1Ddg/Islr2tm1.1Ddg
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S6/SvEvTac * BALB/cJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Islr2tm1.1Ddg mutation (1 available); any Islr2 mutation (24 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• axons of the peroneal nerves are stalled compared to in wild-type mice




Genotype
MGI:6406414
cx17
Allelic
Composition
Epha4tm1.2Bzh/Epha4tm1.2Bzh
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epha4tm1.2Bzh mutation (0 available); any Epha4 mutation (67 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• abducens nerves appear less defasciculated than in Chn1tm1.2Ece homozygotes
• aberrant abducens nerve fascicles wander more than in Chn1tm1.2Ece homozygotes and some aberrant abducens nerve fascicles track with the mandibular and cervical branches of the facial nerve, rather than the buccal branch
• embryos show minor aberrant innervation of the lateral rectus from the oculomotor nerve
• however, trochlear nerve and first spine projections are unaffected
• E13.5 mutants have approximately half the number of abducens motor neurons than in wild-type
• in orbits, the lateral rectus muscle is appropriately innervated by the abducens nerve, although occasionally the nerve appears thinner

cellular
• abducens nerves appear less defasciculated than in Chn1tm1.2Ece homozygotes




Genotype
MGI:6406415
cx18
Allelic
Composition
Chn1tm1.2Ece/Chn1tm1.2Ece
Epha4tm1.2Bzh/Epha4tm1.2Bzh
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chn1tm1.2Ece mutation (0 available); any Chn1 mutation (44 available)
Epha4tm1.2Bzh mutation (0 available); any Epha4 mutation (67 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 2 of 5 embryos show orbital innervation failure by abducens nerve
• abducens nerve shows enhanced wandering of abducens bundles
• however, embryos show normalized abducens exit and fasciculation
• embryos show increased abducens nerve stalling compared to homozygous Chn1tm1.1Ece homozygotes and similar abducens nerve wandering compared to Epha4tm1.2Bzh homozygotes
• stalled projections do not stay within normal nerve boundaries and instead wander to track with the mandibular and cervical branches of the facial nerve
• the abducens nerve fails to innervate the lateral rectus at E16.5, which instead is innervated by aberrant branches of the oculomotor nerve; this phenotype is worse than seen in single Epha4tm1.2Bzh homozygotes
• embryos show a reduction in abducens nerve length and diameter at the orbit




Genotype
MGI:6406417
cx19
Allelic
Composition
Chn1tm1.2Ece/Chn1+
Epha4tm1.2Bzh/Epha4tm1.2Bzh
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chn1tm1.2Ece mutation (0 available); any Chn1 mutation (44 available)
Epha4tm1.2Bzh mutation (0 available); any Epha4 mutation (67 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• while embryos show normalized abducens exit and fasciculation, abducens nerve stalling is increased in the abducens fasciculation region, with both reduced abducens nerve length and thinner nerve diameter near the orbit
• stalled projections do not stay within normal nerve boundaries and instead wander to track with the mandibular and cervical branches of the facial nerve
• abducens nerve length is reduced in embryos and nerve diameter is thinner near the orbit




Genotype
MGI:6406444
cx20
Allelic
Composition
Chn1tm1.1Ece/Chn1tm1.1Ece
Epha4tm1.2Bzh/Epha4tm1.2Bzh
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chn1tm1.1Ece mutation (0 available); any Chn1 mutation (44 available)
Epha4tm1.2Bzh mutation (0 available); any Epha4 mutation (67 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• embryos exhibit trochlear nerve branching abnormalities similar to those of Chn1tm1.1Ece homozygous embryos
• however, the first cervical spine projections are normal




Genotype
MGI:5516590
cx21
Allelic
Composition
Ark2cGt(P9-3F)Sor/Ark2c+
Smad9tm1Rob/Smad9tm1Rob
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129S/SvEv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ark2cGt(P9-3F)Sor mutation (0 available); any Ark2c mutation (11 available)
Smad9tm1Rob mutation (2 available); any Smad9 mutation (32 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice survive prior to weaning
• fewer than expected mice are born

muscle
• unilateral penetrance in the muscles controlling the digits and wrist

behavior/neurological
• some mice exhibit reduced hang time from a cage lid compared with wild-type mice

nervous system
• reduction or loss of the most distal innervation in the forelimbs

skeleton
• as in Rnf165 homozygotes

limbs/digits/tail
• as in Rnf165 homozygotes




Genotype
MGI:5302061
cx22
Allelic
Composition
Gdpd5tm1.1Itl/Gdpd5tm1.1Itl
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129/Sv * C57BL/6 * C57BL/6J * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdpd5tm1.1Itl mutation (0 available); any Gdpd5 mutation (37 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice exhibit thinner major axonal tracts emerging from lumbosacral segment 2 compared with wild-type mice
• however, existing lateral motor neurons at E12.5 and E14.5 are normal
• mice exhibit a delay and loss of lumbosacral segment motor neuron pools compared with wild-type mice




Genotype
MGI:4456172
cx23
Allelic
Composition
Egr3tm1Jmi/Egr3tm1Jmi
Gfra1tm3Jmi/Gfra1+
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egr3tm1Jmi mutation (2 available); any Egr3 mutation (17 available)
Gfra1tm3Jmi mutation (0 available); any Gfra1 mutation (33 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice exhibit a loss of small diameter cholinergic motor neurons compared with wild-type mice
• surviving Gfra1+ motor neurons exhibit somatic shrinkage and morphological evidence of degeneration unlike in wild-type mice
• Gfra1+, cholinergic, Gfa1+ HB9-GFP-, and Gfra1+ HB9-GFP+ motor neurons are reduced compared to in wild-type mice
• mice exhibit a loss of small diameter cholinergic motor neurons compared with wild-type mice
• however, the number of large diameter motor neurons is normal
• surviving Gfra1+ motor neurons exhibit somatic shrinkage and morphological evidence of degeneration unlike in wild-type mice




Genotype
MGI:5882128
cx24
Allelic
Composition
Cpeb4tm1a(EUCOMM)Wtsi/Cpeb4tm1a(EUCOMM)Wtsi
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: C57BL/6 * C57BL/6J * C57BL/6NTac
Cell Lines EPD0060_4_E10
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cpeb4tm1a(EUCOMM)Wtsi mutation (1 available); any Cpeb4 mutation (20 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• P0 mice show no discernible differences in the area for GFP-positive motor neurons in the cervical spinal cord relative to wild-type controls
• expression level of a neuronal marker (NeuN) is normal in P0 spinal cords, suggesting lack of cell death




Genotype
MGI:6404639
cx25
Allelic
Composition
Tardbptm3.1Ckjs/Tardbp+
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: C57BL/6 * C57BL/6J * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tardbptm3.1Ckjs mutation (0 available); any Tardbp mutation (68 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• embryonic stem cell-derived spinal motor neurons show increased cytosolic calcium ion concentrations

nervous system
• embryonic stem cells differentiated to motor neurons in culture show a reduction in survival on day 14 in culture
• embryonic stem cells differentiated to motor neurons in culture show a reduction in average axon length on day 14 in culture




Genotype
MGI:6160086
cx26
Allelic
Composition
Ecel1em2Hiki/Ecel1em2Hiki
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ecel1em2Hiki mutation (0 available); any Ecel1 mutation (41 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

respiratory system

nervous system
• at E11.5, the abducens nerves stop extending their axons towards the target muscles around the eye is some mutants
• at E12.5, substantial numbers of abducens nerves follow the wrong pathway in some mutants and some stop extending their axons toward their target muscles without any correct innervation indicating axon guidance defects
• however, the oculomotor nerves and trochlear nerves show a normal trajectory to target muscles
• embryonic motor nerves show abnormal innervation to hindlimb muscles
• the number of motor nerve terminals is decreased in gracilis anterior muscles and rectus femoris muscle
• mice show axonal arborization defects in foot muscles
• embryonic motor nerves show abnormal innervation to hindlimb muscles and defects in axonal arborization in foot muscles
• mice exhibit impaired axonal arborization of motor nerves in the diaphragm
• reduction in nerve length of abducens nerves

cellular
• at E11.5, the abducens nerves stop extending their axons towards the target muscles around the eye is some mutants
• at E12.5, substantial numbers of abducens nerves follow the wrong pathway in some mutants and some stop extending their axons toward their target muscles without any correct innervation indicating axon guidance defects
• however, the oculomotor nerves and trochlear nerves show a normal trajectory to target muscles




Genotype
MGI:6160009
cx27
Allelic
Composition
Ecel1em1Hiki/Ecel1em1Hiki
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ecel1em1Hiki mutation (0 available); any Ecel1 mutation (41 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• mutants exhibit a variable penetrance of defects in axon guidance of abducens nerves, with the abducens nerves stopping extension of their axons towards the target muscles around the eye is some mutants at E11.5 and substantial numbers of abducens nerves following the wrong pathway in some mutants and some stopping extension of their axons toward their target muscles without any correct innervation at E12.5, indicating axon guidance defects
• abnormal motor innervation is seen in the hindlimbs (J:262090)
• the number of motor nerve terminals is decreased in the gracilis anterior muscle and the rectus femoris muscle (J:262090)
• axonal arborization of motor nerves is impaired in the diaphragm
• reduction in nerve length of abducens nerves

cellular
• mutants exhibit a variable penetrance of defects in axon guidance of abducens nerves, with the abducens nerves stopping extension of their axons towards the target muscles around the eye is some mutants at E11.5 and substantial numbers of abducens nerves following the wrong pathway in some mutants and some stopping extension of their axons toward their target muscles without any correct innervation at E12.5, indicating axon guidance defects

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
distal arthrogryposis DOID:0050646 OMIM:PS108120
J:262090




Genotype
MGI:4355986
cx28
Allelic
Composition
Kif7maki/Kif7maki
Tg(Hlxb9-GFP)1Tmj/?
Genetic
Background
involves: C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif7maki mutation (0 available); any Kif7 mutation (40 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die at the end of gestation

nervous system
• at E10.5 the motor neuron region is expanded dorsally
• at E10.5 the motor neuron region is expanded dorsally in the neural tube
• at E10.5 in the neural tube

limbs/digits/tail
• preaxial polydactyly

embryo
• at E10.5 the motor neuron region is expanded dorsally




Genotype
MGI:4355994
cx29
Allelic
Composition
Dync2h1mmi/Dync2h1mmi
Tg(Hlxb9-GFP)1Tmj/?
Genetic
Background
involves: C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync2h1mmi mutation (0 available); any Dync2h1 mutation (215 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• lack motor neurons in the cervical spinal cord but have motor neurons that span the midline axis in more ventral regions




Genotype
MGI:4355992
cx30
Allelic
Composition
Dync2h1mmi/Dync2h1mmi
Kif7maki/Kif7maki
Tg(Hlxb9-GFP)1Tmj/?
Genetic
Background
involves: C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync2h1mmi mutation (0 available); any Dync2h1 mutation (215 available)
Kif7maki mutation (0 available); any Kif7 mutation (40 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• lack ventral neural cell types
• have only a very small number of motor neurons at all rostrocaudal positions in the spinal cord
• loss of motor neurons is increased compared to Dync2h1 single mutants

embryo
• lack ventral neural cell types




Genotype
MGI:4355991
cx31
Allelic
Composition
Ift172wim/Ift172wim
Kif7maki/Kif7maki
Tg(Hlxb9-GFP)1Tmj/?
Genetic
Background
involves: C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift172wim mutation (0 available); any Ift172 mutation (75 available)
Kif7maki mutation (0 available); any Kif7 mutation (40 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• phenotype is indistinguishable for that of Ift172 single mutants with the absence of Nkx2.2+ cells and few motor neurons in the neural tube

embryo
• phenotype is indistinguishable for that of Ift172 single mutants with the absence of Nkx2.2+ cells and few motor neurons in the neural tube




Genotype
MGI:4355987
cx32
Allelic
Composition
Kif7maki/Kif7maki
Smobnb/Smobnb
Tg(Hlxb9-GFP)1Tmj/?
Genetic
Background
involves: C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif7maki mutation (0 available); any Kif7 mutation (40 available)
Smobnb mutation (0 available); any Smo mutation (39 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• compound mutants develop until E10.5, unlike Smo single mutants that die at or before E9.0

nervous system
N
• unlike Smo single mutants, compound mutants develop ventral neural types





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory