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Phenotypes Associated with This Genotype
Genotype
MGI:3056800
Allelic
Composition
Lmx1adr-J/Lmx1adr-J
Genetic
Background
involves: C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1adr-J mutation (1 available); any Lmx1a mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: shorter life span than wild-type in original mixed background
• Background Sensitivity: initial breeding experiments in mixed background generated many live born homozygous pups

behavior/neurological

hearing/vestibular/ear

pigmentation
• a complete white belt around trunk with some variability

nervous system
• abnormal neuronal migration contributes to abnormal cerebellum development
• in vertebrae T9-T13
• significant changes in the shape of rhombomeres 3, 4, and 5 are observed in homozygote embryos
• however, hindbrain segmentation and territories posterior to r6 are not affected
• r3 is deformed and bends posteriorly
• the dorsal/lateral domains of r4 are compressed or reduced in width
• however, the ventral region of r4 is normal, as shown by proper migration of the facial motor neurone population along the midline into r5
• r5 is broadened and not separated at the midline into two bilateral domains as seen in wild-type embryos
• defective roof plate formation in the hindbrain
• pyramidal layer forms widely dispersed arrangements in this area
• there is aberrant cholinergic activity
• forms widely dispersed arrangements in CA3 region
• there are ectopically located pyramidal cells in the stratum radiatum and stratum oriens
• abnormal acetylcholinesterase activity is found in the ectopic pyramidal cells
• the cerebellum is almost completely absent
• disruptions in foliation are found
• there are mixtures of normal and abnormal laminated structure
• islands of both granule and Purkinje cells or just granule cells are observed
• much reduced glossopharyngeal ganglion
• an accessory branch originating in the glossopharyngeal/vagus region projects abnormally

craniofacial
• the shape and ossification is severely disrupted
• the shape of the parietal bone is affected
• highly disorganized lamboid suture

skeleton
• the shape and ossification is severely disrupted
• the shape of the parietal bone is affected
• highly disorganized lamboid suture
• neural arches in C1 fail to form along the dorsal midline
• delay in fusion of the arches in C2 and C3
• failure in dorsal fusion of vertebrae T9-T13 causing grossly altered neural arches
• occasional synostosis of the cranial vault along the interface of the interparietal and supraoccipital bone
• responsible for the blebbing on the head seen in live animals

cellular
• an abnormal distribution of acetylcholinesterase is found in the hippocampus
• abnormal neuronal migration contributes to abnormal cerebellum development
• disruption of cell proliferation contributes to abnormal cerebellum development

embryo
• in vertebrae T9-T13
• significant changes in the shape of rhombomeres 3, 4, and 5 are observed in homozygote embryos
• however, hindbrain segmentation and territories posterior to r6 are not affected
• r3 is deformed and bends posteriorly
• the dorsal/lateral domains of r4 are compressed or reduced in width
• however, the ventral region of r4 is normal, as shown by proper migration of the facial motor neurone population along the midline into r5
• r5 is broadened and not separated at the midline into two bilateral domains as seen in wild-type embryos
• defective roof plate formation in the hindbrain

integument
• a complete white belt around trunk with some variability


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
06/09/2026
MGI 6.24
The Jackson Laboratory