Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbx1tm1Gld mutation
(0 available);
any
Lbx1 mutation
(13 available)
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nervous system
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• at ages E11.5 and E12.5, neurons expressing GABAergic markers are reduced in dorsal spinal cord; number of neurons expressing Gad1 is lower than in wild-type mice in lumbar spinal cord at E12.5
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• at E12.5, a marked increase in dorsal glutaminergic neurons (VGLUT2-positive) neurons is seen in the caudal spinal cord relative to controls; this increase corresponds to decrease in GABAergic neurons, suggesting switch of neurotransmitter fate
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muscle
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N |
• perineal muscles form normally
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• all distal limb muscles are absent
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbx1tm1Gld mutation
(0 available);
any
Lbx1 mutation
(13 available)
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mortality/aging
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• majority of mutants are born dead; a living mutant was born and died within 2 hours
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muscle
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N |
• deep muscles of back, intercostals muscles and ventral body wall muscles are comparable to wild-type and heterozygous littermates
• tongue muscles and diaphragm muscle form in homozygotes
• small differences are observed in distribution of muscle tissue within the diaphragm, but no significant difference is seen in overall organization of diaphragm; tongue muscle shows no significant difference in size or organization relative to wild-type newborns
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• at E9.5, muscle precursors (Pax 3-positive cells) are clustered in the trunk, beneath the ventrolateral lip of dermomyotome; at E10.5, no Pax 3-positive cells are observed in forelimbs, while an enlarged stream of cells is seen adjacent to ventral aspect of limb at posterior forelimb levels
• in hindlimbs at E10.5, precursors delaminate but do not migrate very far from ventral edge of dermomyotome
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• proximal forelimb flexors (those connecting humerus, radius, and ulna to carpal bones) are present, but truncated along proximodistal axis of limb; muscle tissue is present only at proximal end of bones, giving way to tendon midway between wrist and elbow, while at P0, skeletal muscle extends 75% of distance from elbow to wrist
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• MyoD-positive cells are absent from hindlimbs in E13.5 embryos, with exception of anlage of gluteus medius and another unidentified muscle
• extensor muscle anlagen in forelimbs are absent at E13.5, while flexor muscles show substantial size reduction midway between wrist and elbow
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• all hindlimb muscles are absent, except for gluteus medius and one other unidentified hypaxial muscle in newborn mice
• all only 2 hindlimb suspension muscles (quadriceps lumborum, pubococcygeus) are retained in homozygotes, suggesting hypaxial derivation of other suspension muscles
• in forelimbs, all extensor muscles are absent, but some flexor muscles are present
• muscles on extensor side of scapula (muscles derived from dorsal muscle mass) are absent, but muscle on flexor side is present but reduced in size
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• newborn mice display severe reduction in muscle mass in shoulders, pelvic girdle and limb extremities
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limbs/digits/tail
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• forelimbs are hyperflexed and thinner than in wild-type neonates
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• severely reduced in girth in newborn mice
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• proximal forelimb flexors (those connecting humerus, radius, and ulna to carpal bones) are present, but truncated along proximodistal axis of limb; muscle tissue is present only at proximal end of bones, giving way to tendon midway between wrist and elbow, while at P0, skeletal muscle extends 75% of distance from elbow to wrist
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cellular
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• at E9.5, muscle precursors (Pax 3-positive cells) are clustered in the trunk, beneath the ventrolateral lip of dermomyotome; at E10.5, no Pax 3-positive cells are observed in forelimbs, while an enlarged stream of cells is seen adjacent to ventral aspect of limb at posterior forelimb levels
• in hindlimbs at E10.5, precursors delaminate but do not migrate very far from ventral edge of dermomyotome
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbx1tm1Gld mutation
(0 available);
any
Lbx1 mutation
(13 available)
Tlx3tm1Sjk mutation
(0 available);
any
Tlx3 mutation
(14 available)
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nervous system
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N |
• at hindlimb level, reduction in glutaminergic neurons observed in Lbx1 mutants is reversed
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• at age E12.5, neurons expressing GABAergic markers are reduced in dorsal spinal cord; similar to phenotype observed in Lbx1-single mutants
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Analysis Tools