All Phenotypes Tg(Hlxb9-GFP)1Tmj MGI Mouse

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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	Epha4^tm1.1Bzh/Epha4^tm1.1Bzh Isl1^tm1(cre)Sev/Isl1⁺ Tg(Hlxb9-GFP)1Tmj/0	involves: 129S/Sv * Black Swiss * C57BL/6J * CD-1 * FVB/N	MGI:6406420
cn2	Epha4^tm1.1Bzh/Epha4^tm1.1Bzh Tg(Hlxb9-GFP)1Tmj/0 Twist2^tm1(cre)Dor/Twist2⁺	involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N	MGI:6406424
cx3	Col25a1^tm1.1Tiwa/Col25a1^tm1.1Tiwa Tg(Hlxb9-GFP)1Tmj/0	B6.Cg-Col25a1^tm1.1Tiwa Tg(Hlxb9-GFP)1Tmj	MGI:5781122
cx4	Gli3^Xt/? Kif7^maki/Kif7^maki Tg(Hlxb9-GFP)1Tmj/?	involves: 101/H * C3H/HeH * C57BL/6J * CBA/H * FVB/N	MGI:4355989
cx5	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr Tg(Hlxb9-GFP)1Tmj/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA	MGI:5554935
cx6	Bax^tm1Sjk/Bax^tm1Sjk Chn1^tm1.1Ece/Chn1^tm1.1Ece Tg(Hlxb9-GFP)1Tmj/0	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J	MGI:6406403
cx7	Chn1^tm1.1Ece/Chn1⁺ Tg(Hlxb9-GFP)1Tmj/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J	MGI:6406395
cx8	Chn1^tm1.1Ece/Chn1^tm1.1Ece Tg(Hlxb9-GFP)1Tmj/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J	MGI:6406385
cx9	Chn1^tm1.2Ece/Chn1^tm1.2Ece Tg(Hlxb9-GFP)1Tmj/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J	MGI:6406400
cx10	Ecel1^tm1Hiki/Ecel1^tm1Hiki Tg(Hlxb9-GFP)1Tmj/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:6160055
cx11	Gli2^tm1Alj/Gli2^tm1Alj Kif7^maki/Kif7^maki Tg(Hlxb9-GFP)1Tmj/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N	MGI:4355988
cx12	Kif7^maki/Kif7^maki Ptch1^tm1Mps/Ptch1^tm1Mps Tg(Hlxb9-GFP)1Tmj/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N	MGI:4355990
cx13	Bmpr2^tm1Kmi/Bmpr2⁺ Ark2c^Gt(P9-3F)Sor/Ark2c⁺ Tg(Hlxb9-GFP)1Tmj/0	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:5516589
cx14	Mir34a^tm1.1Aven/Mir34a^tm1.1Aven Mirc21^tm1.1Aven/Mirc21^tm1.1Aven Mirc34^em1Jnch/Mirc34^em1Jnch Tg(Hlxb9-GFP)1Tmj/0	involves: 129S4/SvJae * C57BL/6 * CBA * FVB/N	MGI:6696405
cx15	Ark2c^Gt(P9-3F)Sor/Ark2c^Gt(P9-3F)Sor Tg(Hlxb9-GFP)1Tmj/0	involves: 129S4/SvJaeSor * C57BL/6 * CBA	MGI:5516588
cx16	Islr2^tm1.1Ddg/Islr2^tm1.1Ddg Tg(Hlxb9-GFP)1Tmj/0	involves: 129S6/SvEvTac * BALB/cJ * C57BL/6 * CBA	MGI:4413454
cx17	Epha4^tm1.2Bzh/Epha4^tm1.2Bzh Tg(Hlxb9-GFP)1Tmj/0	involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N	MGI:6406414
cx18	Chn1^tm1.2Ece/Chn1^tm1.2Ece Epha4^tm1.2Bzh/Epha4^tm1.2Bzh Tg(Hlxb9-GFP)1Tmj/0	involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N	MGI:6406415
cx19	Chn1^tm1.2Ece/Chn1⁺ Epha4^tm1.2Bzh/Epha4^tm1.2Bzh Tg(Hlxb9-GFP)1Tmj/0	involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N	MGI:6406417
cx20	Chn1^tm1.1Ece/Chn1^tm1.1Ece Epha4^tm1.2Bzh/Epha4^tm1.2Bzh Tg(Hlxb9-GFP)1Tmj/0	involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N	MGI:6406444
cx21	Ark2c^Gt(P9-3F)Sor/Ark2c⁺ Smad9^tm1Rob/Smad9^tm1Rob Tg(Hlxb9-GFP)1Tmj/0	involves: 129S/SvEv * C57BL/6 * CBA	MGI:5516590
cx22	Gdpd5^tm1.1Itl/Gdpd5^tm1.1Itl Tg(Hlxb9-GFP)1Tmj/0	involves: 129/Sv * C57BL/6 * C57BL/6J * CBA	MGI:5302061
cx23	Egr3^tm1Jmi/Egr3^tm1Jmi Gfra1^tm3Jmi/Gfra1⁺ Tg(Hlxb9-GFP)1Tmj/0	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:4456172
cx24	Cpeb4^{tm1a(EUCOMM)Wtsi}/Cpeb4^{tm1a(EUCOMM)Wtsi} Tg(Hlxb9-GFP)1Tmj/0	involves: C57BL/6 * C57BL/6J * C57BL/6NTac	MGI:5882128
cx25	Tardbp^tm3.1Ckjs/Tardbp⁺ Tg(Hlxb9-GFP)1Tmj/0	involves: C57BL/6 * C57BL/6J * CBA	MGI:6404639
cx26	Ecel1^em2Hiki/Ecel1^em2Hiki Tg(Hlxb9-GFP)1Tmj/0	involves: C57BL/6 * CBA	MGI:6160086
cx27	Ecel1^em1Hiki/Ecel1^em1Hiki Tg(Hlxb9-GFP)1Tmj/0	involves: C57BL/6 * CBA	MGI:6160009
cx28	Kif7^maki/Kif7^maki Tg(Hlxb9-GFP)1Tmj/?	involves: C57BL/6J * FVB/N	MGI:4355986
cx29	Dync2h1^mmi/Dync2h1^mmi Tg(Hlxb9-GFP)1Tmj/?	involves: C57BL/6J * FVB/N	MGI:4355994
cx30	Dync2h1^mmi/Dync2h1^mmi Kif7^maki/Kif7^maki Tg(Hlxb9-GFP)1Tmj/?	involves: C57BL/6J * FVB/N	MGI:4355992
cx31	Ift172^wim/Ift172^wim Kif7^maki/Kif7^maki Tg(Hlxb9-GFP)1Tmj/?	involves: C57BL/6J * FVB/N	MGI:4355991
cx32	Kif7^maki/Kif7^maki Smo^bnb/Smo^bnb Tg(Hlxb9-GFP)1Tmj/?	involves: C57BL/6J * FVB/N	MGI:4355987

Allelic Composition	Epha4^tm1.1Bzh/Epha4^tm1.1Bzh Isl1^tm1(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:
Epha4^tm1.1Bzh mutation (1 available); any Epha4 mutation (67 available)
Isl1^tm1(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

abnormal innervation ( J:243785 )

• 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

abnormal abducens nerve morphology ( J:243785 )

• abducens nerve length is reduced and nerve diameter is thinner near the orbit in embryos

Allelic Composition	Epha4^tm1.1Bzh/Epha4^tm1.1Bzh Tg(Hlxb9-GFP)1Tmj/0 Twist2^tm1(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:
Epha4^tm1.1Bzh mutation (1 available); any Epha4 mutation (67 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
Twist2^tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)

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

nervous system

abnormal innervation ( J:243785 )

• 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

Allelic Composition	Col25a1^tm1.1Tiwa/Col25a1^tm1.1Tiwa Tg(Hlxb9-GFP)1Tmj/0
Genetic Background	B6.Cg-Col25a1^tm1.1Tiwa Tg(Hlxb9-GFP)1Tmj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col25a1^tm1.1Tiwa 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

increased neuron apoptosis ( J:206855 )

• progressive loss of post-mitotic motor neurons by apoptosis

decreased motor neuron number ( J:206855 )

• 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

motor neuron degeneration ( J:206855 )

abnormal phrenic nerve morphology ( J:206855 )

• 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

abnormal phrenic nerve innervation pattern to diaphragm ( J:206855 )

• 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

increased neuron apoptosis ( J:206855 )

• progressive loss of post-mitotic motor neurons by apoptosis

Allelic Composition	Gli3^Xt/? Kif7^maki/Kif7^maki 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:
Gli3^Xt mutation (1 available); any Gli3 mutation (81 available)
Kif7^maki 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

abnormal neural tube morphology ( J:151965 )

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

embryo

abnormal neural tube morphology ( J:151965 )

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

Allelic Composition	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr 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:
Clp1^tm1.1Pngr 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

decreased motor neuron number ( J:196364 )

• reduced GFP+ neurons at E18.5

Allelic Composition	Bax^tm1Sjk/Bax^tm1Sjk Chn1^tm1.1Ece/Chn1^tm1.1Ece 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:
Bax^tm1Sjk mutation (1 available); any Bax mutation (24 available)
Chn1^tm1.1Ece 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

abnormal innervation ( J:243785 )

• 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

Allelic Composition	Chn1^tm1.1Ece/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:
Chn1^tm1.1Ece 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

abnormal eye morphology ( J:243785 )

• 61.3% penetrance of unilateral or bilateral globe retraction

nervous system

abnormal innervation ( J:243785 )

• 21% reduction in abducens nerve exiting bundles from its hindbrain exit to the orbit at E11.5

abnormal abducens nerve morphology ( J:243785 )

• 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

Allelic Composition	Chn1^tm1.1Ece/Chn1^tm1.1Ece 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:
Chn1^tm1.1Ece 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

abnormal eye morphology ( J:243785 )

• 71.8% penetrance of unilateral or bilateral globe retraction

nervous system

abnormal axon fasciculation ( J:243785 )

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

abnormal innervation ( J:243785 )

• 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

abnormal abducens nerve morphology ( J:243785 )

• 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

abnormal axon fasciculation ( J:243785 )

• 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

Allelic Composition	Chn1^tm1.2Ece/Chn1^tm1.2Ece 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:
Chn1^tm1.2Ece 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

abnormal innervation ( J:243785 )

• 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

abnormal abducens nerve morphology ( J:243785 )

• abducens nerve diameter is greater

• however, abducens nerve length is normal

vision/eye

vision/eye phenotype ( J:243785 )

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

Allelic Composition	Ecel1^tm1Hiki/Ecel1^tm1Hiki 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:
Ecel1^tm1Hiki 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

abnormal innervation pattern to muscle ( J:262090 )

• 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

abnormal motor neuron innervation pattern ( J:262090 )

• 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

abnormal neuromuscular synapse morphology ( J:262090 )

• 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

Allelic Composition	Gli2^tm1Alj/Gli2^tm1Alj Kif7^maki/Kif7^maki 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:
Gli2^tm1Alj mutation (0 available); any Gli2 mutation (169 available)
Kif7^maki 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

abnormal neural tube morphology ( J:151965 )

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

absent floor plate ( J:151965 )

embryo

abnormal neural tube morphology ( J:151965 )

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

absent floor plate ( J:151965 )

Allelic Composition	Kif7^maki/Kif7^maki Ptch1^tm1Mps/Ptch1^tm1Mps 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:
Kif7^maki mutation (0 available); any Kif7 mutation (40 available)
Ptch1^tm1Mps 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

embryonic lethality during organogenesis, complete penetrance ( J:151965 )

• compound mutants develop until E10.5, unlike Ptch1 single mutants that arrest at about E9.0

nervous system

abnormal neural tube morphology ( J:151965 )

• 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

abnormal neural tube morphology ( J:151965 )

• 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

Allelic Composition	Bmpr2^tm1Kmi/Bmpr2⁺ Ark2c^Gt(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:
Ark2c^Gt(P9-3F)Sor mutation (0 available); any Ark2c mutation (11 available)
Bmpr2^tm1Kmi 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

prenatal lethality, incomplete penetrance ( J:198828 )

• fewer than expected mice are born

• however, all born mice survive to adulthood

nervous system

abnormal motor neuron innervation pattern ( J:198828 )

• some mice exhibit innervation defects in the dorsal forelimb

behavior/neurological

decreased grip strength ( J:198828 )

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

Allelic Composition	Mir34a^tm1.1Aven/Mir34a^tm1.1Aven Mirc21^tm1.1Aven/Mirc21^tm1.1Aven Mirc34^em1Jnch/Mirc34^em1Jnch 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:
Mir34a^tm1.1Aven mutation (0 available); any Mir34a mutation (9 available)
Mirc21^tm1.1Aven mutation (1 available); any Mirc21 mutation (5 available)
Mirc34^em1Jnch 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

nervous system phenotype ( J:304721 )

N	• mice exhibit normal motor neuron development

Allelic Composition	Ark2c^Gt(P9-3F)Sor/Ark2c^Gt(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:
Ark2c^Gt(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

postnatal lethality, complete penetrance ( J:198828 )

• all mice die within the first 3 postnatal weeks

• however, some mice survive beyond weaning one an unspecified mixed background

neonatal lethality, incomplete penetrance ( J:198828 )

• some mice die at birth

nervous system

nervous system phenotype ( J:198828 )

N	• lateral motor column specification is normal

abnormal axon extension ( J:198828 )

• 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

abnormal motor neuron innervation pattern ( J:198828 )

• 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

abnormal phrenic nerve innervation pattern to diaphragm ( J:198828 )

• 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 circulating lactate level ( J:198828 )

• increased serum lactate levels in mice on a mixed background that survive beyond weaning

cyanosis ( J:198828 )

• mild in postnatal mice at death

dehydration ( J:198828 )

• in postnatal mice at death

hypoxia ( J:198828 )

• mild in mice on a mixed background that survive beyond weaning

growth/size/body

abnormal body size ( J:198828 )

• mice are thin

decreased body size ( J:198828 )

• 50% of normal at P15

• however, body size is normal at E18.5

postnatal growth retardation ( J:198828 )

• newborns fail to grow and thrive

limbs/digits/tail

abnormal autopod morphology ( J:198828 )

• reduced mean foot length due to reduced tor extension

abnormal forelimb morphology ( J:198828 )

• atrophy of forelimb muscles that control forepaw and digit movement

abnormal hindlimb morphology ( J:198828 )

• in some mice

behavior/neurological

aphagia ( J:198828 )

• empty stomach and gut in postnatal mice at death

decreased grip strength ( J:198828 )

• reduced hang time from a cage lid

muscle

skeletal muscle atrophy ( J:198828 )

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

cellular

abnormal axon extension ( J:198828 )

• 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

abnormal joint mobility ( J:198828 )

• 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

Allelic Composition	Islr2^tm1.1Ddg/Islr2^tm1.1Ddg 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:
Islr2^tm1.1Ddg 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

abnormal axon morphology ( J:154926 )

• axons of the peroneal nerves are stalled compared to in wild-type mice

Allelic Composition	Epha4^tm1.2Bzh/Epha4^tm1.2Bzh 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:
Epha4^tm1.2Bzh 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

abnormal axon fasciculation ( J:243785 )

• abducens nerves appear less defasciculated than in Chn1^tm1.2Ece homozygotes

abnormal innervation ( J:243785 )

• aberrant abducens nerve fascicles wander more than in Chn1^tm1.2Ece 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

decreased motor neuron number ( J:243785 )

• E13.5 mutants have approximately half the number of abducens motor neurons than in wild-type

abnormal abducens nerve morphology ( J:243785 )

• in orbits, the lateral rectus muscle is appropriately innervated by the abducens nerve, although occasionally the nerve appears thinner

cellular

abnormal axon fasciculation ( J:243785 )

• abducens nerves appear less defasciculated than in Chn1^tm1.2Ece homozygotes

Allelic Composition	Chn1^tm1.2Ece/Chn1^tm1.2Ece Epha4^tm1.2Bzh/Epha4^tm1.2Bzh 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:
Chn1^tm1.2Ece mutation (0 available); any Chn1 mutation (44 available)
Epha4^tm1.2Bzh 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

abnormal innervation ( J:243785 )

• 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 Chn1^tm1.1Ece homozygotes and similar abducens nerve wandering compared to Epha4^tm1.2Bzh 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 Epha4^tm1.2Bzh homozygotes

abnormal abducens nerve morphology ( J:243785 )

• embryos show a reduction in abducens nerve length and diameter at the orbit

Allelic Composition	Chn1^tm1.2Ece/Chn1⁺ Epha4^tm1.2Bzh/Epha4^tm1.2Bzh Tg(Hlxb9-GFP)1Tmj/0
Genetic Background	involves: 129S/Sv * C57BL/6J * CD-1 * FVB/N

Find Mice

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

nervous system

abnormal innervation ( J:243785 )

• 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

abnormal abducens nerve morphology ( J:243785 )

• abducens nerve length is reduced in embryos and nerve diameter is thinner near the orbit

Allelic Composition	Chn1^tm1.1Ece/Chn1^tm1.1Ece Epha4^tm1.2Bzh/Epha4^tm1.2Bzh 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:
Chn1^tm1.1Ece mutation (0 available); any Chn1 mutation (44 available)
Epha4^tm1.2Bzh 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

abnormal innervation ( J:243785 )

• embryos exhibit trochlear nerve branching abnormalities similar to those of Chn1^tm1.1Ece homozygous embryos

• however, the first cervical spine projections are normal

Allelic Composition	Ark2c^Gt(P9-3F)Sor/Ark2c⁺ Smad9^tm1Rob/Smad9^tm1Rob 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:
Ark2c^Gt(P9-3F)Sor mutation (0 available); any Ark2c mutation (11 available)
Smad9^tm1Rob 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

postnatal lethality, incomplete penetrance ( J:198828 )

• fewer than expected mice survive prior to weaning

prenatal lethality, incomplete penetrance ( J:198828 )

• fewer than expected mice are born

muscle

skeletal muscle atrophy ( J:198828 )

• unilateral penetrance in the muscles controlling the digits and wrist

behavior/neurological

decreased grip strength ( J:198828 )

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

nervous system

abnormal motor neuron innervation pattern ( J:198828 )

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

skeleton

abnormal joint mobility ( J:198828 )

• as in Rnf165 homozygotes

limbs/digits/tail

abnormal forelimb morphology ( J:198828 )

• as in Rnf165 homozygotes

Allelic Composition	Gdpd5^tm1.1Itl/Gdpd5^tm1.1Itl 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:
Gdpd5^tm1.1Itl 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

abnormal motor neuron morphology ( J:178550 )

• 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

decreased motor neuron number ( J:178550 )

• mice exhibit a delay and loss of lumbosacral segment motor neuron pools compared with wild-type mice

Allelic Composition	Egr3^tm1Jmi/Egr3^tm1Jmi Gfra1^tm3Jmi/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:
Egr3^tm1Jmi mutation (2 available); any Egr3 mutation (17 available)
Gfra1^tm3Jmi 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

abnormal cholinergic neuron morphology ( J:160727 )

• mice exhibit a loss of small diameter cholinergic motor neurons compared with wild-type mice

abnormal motor neuron morphology ( J:160727 )

• surviving Gfra1+ motor neurons exhibit somatic shrinkage and morphological evidence of degeneration unlike in wild-type mice

decreased motor neuron number ( J:160727 )

• 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

motor neuron degeneration ( J:160727 )

• surviving Gfra1+ motor neurons exhibit somatic shrinkage and morphological evidence of degeneration unlike in wild-type mice

Allelic Composition	Cpeb4^{tm1a(EUCOMM)Wtsi}/Cpeb4^{tm1a(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:
Cpeb4^{tm1a(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

nervous system phenotype ( J:236098 )

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

Allelic Composition	Tardbp^tm3.1Ckjs/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:
Tardbp^tm3.1Ckjs 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

abnormal calcium ion homeostasis ( J:285792 )

• embryonic stem cell-derived spinal motor neurons show increased cytosolic calcium ion concentrations

nervous system

abnormal motor neuron morphology ( J:285792 )

• embryonic stem cells differentiated to motor neurons in culture show a reduction in survival on day 14 in culture

abnormal axon morphology ( J:285792 )

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

Allelic Composition	Ecel1^em2Hiki/Ecel1^em2Hiki Tg(Hlxb9-GFP)1Tmj/0
Genetic Background	involves: C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ecel1^em2Hiki 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

perinatal lethality, complete penetrance ( J:260240 )

respiratory system

respiratory failure ( J:260240 )

nervous system

abnormal axon guidance ( J:260240 )

• 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

abnormal innervation pattern to muscle ( J:260240 )

• 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

abnormal motor neuron innervation pattern ( J:260240 )

• embryonic motor nerves show abnormal innervation to hindlimb muscles and defects in axonal arborization in foot muscles

abnormal phrenic nerve innervation pattern to diaphragm ( J:260240 )

• mice exhibit impaired axonal arborization of motor nerves in the diaphragm

abnormal abducens nerve morphology ( J:260240 )

• reduction in nerve length of abducens nerves

cellular

abnormal axon guidance ( J:260240 )

• at E11.5, the abducens nerves stop extending their axons towards the target muscles around the eye is some mutants

• however, the oculomotor nerves and trochlear nerves show a normal trajectory to target muscles

Allelic Composition	Ecel1^em1Hiki/Ecel1^em1Hiki Tg(Hlxb9-GFP)1Tmj/0
Genetic Background	involves: C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ecel1^em1Hiki 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

perinatal lethality, complete penetrance ( J:260240 )

nervous system

abnormal axon guidance ( J:260240 )

• 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 neuron innervation pattern ( J:260240 , J:262090 )

• 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)

abnormal phrenic nerve innervation pattern to diaphragm ( J:262090 )

• axonal arborization of motor nerves is impaired in the diaphragm

abnormal abducens nerve morphology ( J:260240 )

• reduction in nerve length of abducens nerves

cellular

abnormal axon guidance ( J:260240 )

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

Allelic Composition	Kif7^maki/Kif7^maki Tg(Hlxb9-GFP)1Tmj/?
Genetic Background	involves: C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif7^maki 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

perinatal lethality, complete penetrance ( J:151965 )

• die at the end of gestation

nervous system

abnormal neural tube morphology ( J:151965 )

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

abnormal motor neuron morphology ( J:151965 )

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

increased motor neuron number ( J:151965 )

• at E10.5 in the neural tube

limbs/digits/tail

preaxial polydactyly ( J:151965 )

• preaxial polydactyly

embryo

abnormal neural tube morphology ( J:151965 )

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

Allelic Composition	Dync2h1^mmi/Dync2h1^mmi Tg(Hlxb9-GFP)1Tmj/?
Genetic Background	involves: C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync2h1^mmi 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

abnormal motor neuron morphology ( J:151965 )

• lack motor neurons in the cervical spinal cord but have motor neurons that span the midline axis in more ventral regions

Allelic Composition	Dync2h1^mmi/Dync2h1^mmi Kif7^maki/Kif7^maki Tg(Hlxb9-GFP)1Tmj/?
Genetic Background	involves: C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync2h1^mmi mutation (0 available); any Dync2h1 mutation (215 available)
Kif7^maki 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

abnormal neural tube morphology ( J:151965 )

• lack ventral neural cell types

abnormal motor neuron morphology ( J:151965 )

• 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

abnormal neural tube morphology ( J:151965 )

• lack ventral neural cell types

Allelic Composition	Ift172^wim/Ift172^wim Kif7^maki/Kif7^maki Tg(Hlxb9-GFP)1Tmj/?
Genetic Background	involves: C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift172^wim mutation (0 available); any Ift172 mutation (75 available)
Kif7^maki 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

abnormal neural tube morphology ( J:151965 )

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

absent floor plate ( J:151965 )

embryo

abnormal neural tube morphology ( J:151965 )

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

absent floor plate ( J:151965 )

Allelic Composition	Kif7^maki/Kif7^maki Smo^bnb/Smo^bnb Tg(Hlxb9-GFP)1Tmj/?
Genetic Background	involves: C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif7^maki mutation (0 available); any Kif7 mutation (40 available)
Smo^bnb 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

embryonic lethality during organogenesis, complete penetrance ( J:151965 )

• compound mutants develop until E10.5, unlike Smo single mutants that die at or before E9.0

nervous system

nervous system phenotype ( J:151965 )

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

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