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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Lbx1tm1Thbr
targeted mutation 1, Thomas Braun
MGI:2386948
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Lbx1tm1Thbr/Lbx1tm1Thbr involves: 129S4/SvJae MGI:3844347
hm2
Lbx1tm1Thbr/Lbx1tm1Thbr involves: 129S4/SvJae * C57BL/6 MGI:3844348
cx3
Lbx1tm1Thbr/Lbx1tm1Thbr
Pax3Sp-1H/Pax3Sp-1H
involves: 101/H * 129S4/SvJae * C3H/HeH * C57BL/6 MGI:3844349


Genotype
MGI:3844347
hm1
Allelic
Composition
Lbx1tm1Thbr/Lbx1tm1Thbr
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbx1tm1Thbr mutation (0 available); any Lbx1 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice with abnormal heart looping die between E9.5 and E11.5

cardiovascular system
• increased cell proliferation is seen in various regions of the heart at E14.5, E15.5, E17.5 and P0
• about 15% of mice show looping abnormalities including straight heart tubes, incomplete looping, and variable dilations along the heart tube
• enlarged coronary vessels in newborns
• a thickened interventricular septum is seen in newborns
• seen in newborns
• increase in thickness is due to hyperplasia not hypertrophy as myocyte size is similar to controls

muscle
N
• despite being derived from Lbx1+ precursor cells diaphragm and tongue muscle morphology appears normal
• migration of most lacZ expressing precursor cells is disrupted with lacZ+ cells
• ectopically distributed along the rostral caudal axis in the intermediate and lateral plate mesoderm at E10.5
• migration of precursor cells to some ventral limb muscles, tongue and diaphragm appears slightly delayed
• severe limb muscle defects
• hindlimbs contain only a few scattered myocytes
• no myotubes are detected in the dorsal part of the forelimbs, while the ventral flexor muscles are mostly present but a few are absent or reduced in size
• affected forelimb ventral muscles (m. flexor digitorum superficalis et profundi, m. opponens pollicis and m. adductor pollicic) are at the distal end of the limb
• most shoulder muscles are also missing
• remaining forelimb muscles contain fewer myofibers with enlarged myotubes containing centrally located nuclei

limbs/digits/tail
• most ventral flexor muscles are present but a few are absent or reduced in size
• abnormally bent morphology in newborns
• no myotubes are detected in the dorsal part of the forelimbs
• affected forelimb ventral muscles (m. flexor digitorum superficalis et profundi, m. opponens pollicis and m. adductor pollicic) are at the distal end of the limb
• thin compared to heterozygous littermates
• hindlimbs contain only a few scattered myocytes
• severe limb muscle defects
• hindlimbs contain only a few scattered myocytes
• no myotubes are detected in the dorsal part of the forelimbs, while the ventral flexor muscles are mostly present but a few are absent or reduced in size
• affected forelimb ventral muscles (m. flexor digitorum superficalis et profundi, m. opponens pollicis and m. adductor pollicic) are at the distal end of the limb
• most shoulder muscles are also missing
• remaining forelimb muscles contain fewer myofibers with enlarged myotubes containing centrally located nuclei

embryo
• seen in mice with abnormal heart looping

behavior/neurological
• no movement of the forelimbs is seen although spontaneous trunk movements are present
• no movement of the hindlimbs is seen although spontaneous trunk movements are present

cellular
• migration of most lacZ expressing precursor cells is disrupted with lacZ+ cells
• ectopically distributed along the rostral caudal axis in the intermediate and lateral plate mesoderm at E10.5
• migration of precursor cells to some ventral limb muscles, tongue and diaphragm appears slightly delayed




Genotype
MGI:3844348
hm2
Allelic
Composition
Lbx1tm1Thbr/Lbx1tm1Thbr
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbx1tm1Thbr mutation (0 available); any Lbx1 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• despite decreased cell numbers in the posterior horn, dorsal root ganglia neurons are normal
• expression analysis indicates los of dorsal cell identities in the neural tube at E11.5
• smaller compared to wild-type controls at E18.5
• at E18.5 a severe reduction in the number of cells in the dorsal horn is seen
• reduction in cell number corresponds to changes in laminae I - V including the neck of the spinal cord

embryo
• expression analysis indicates los of dorsal cell identities in the neural tube at E11.5




Genotype
MGI:3844349
cx3
Allelic
Composition
Lbx1tm1Thbr/Lbx1tm1Thbr
Pax3Sp-1H/Pax3Sp-1H
Genetic
Background
involves: 101/H * 129S4/SvJae * C3H/HeH * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbx1tm1Thbr mutation (0 available); any Lbx1 mutation (13 available)
Pax3Sp-1H mutation (0 available); any Pax3 mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• the neural tube is completely open along the rostrocaudal axis unlike in mice homozygous for either allele alone

embryo
• the neural tube is completely open along the rostrocaudal axis unlike in mice homozygous for either allele alone





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory