Phenotypes Associated with This Genotype

Genotype
MGI:3052222

• Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo
• Genetic Background: involves: 129S7/SvEvBrd

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

nervous system

abnormal brain development ( J:117035 )

decreased rhombomere 1 size ( J:117035 )

• small rhombomere 1 with fewer proliferating cells at E10.5

abnormal midbrain-hindbrain boundary development ( J:117035 )

• slight increase in the number of apoptotic cells at the 7 somite stage and a more significant increase at the 13 somite stage

absent midbrain-hindbrain boundary ( J:117035 )

• at E10.5 and E12.5, the constriction at the midbrain-hindbrain boundary is absent

abnormal tectum morphology ( J:117035 )

abnormal superior colliculus morphology ( J:117035 )

• fused to the cerebellum

decreased superior colliculus size ( J:117035 )

small tectum ( J:117035 )

• at E18.5 and P0

• fewer proliferating cells are found at E10.5

abnormal pretectal region morphology ( J:117035 )

• the pretectal region extends further caudally

abnormal cerebral cortex morphology ( J:117035 )

• the cerebral cortex extend further caudally

abnormal cerebellum morphology ( J:117035 )

• the medial portion is absent and the remainder is fused to the superior colliculus

small cerebellum ( J:117035 )

• at E18.5 and P0

abnormal sensory neuron innervation pattern ( J:95961 )

• impaired development of laminae I and II neurons appears to delay the innervation of primary cutaneous afferents

• at E14.5, Trk+ fibers (nociceptive sensory neurons) have not migrated into the dorsal laminae and by E17.5, fibers have migrated but in a disorganized manner

embryo

decreased rhombomere 1 size ( J:117035 )

• small rhombomere 1 with fewer proliferating cells at E10.5

vision/eye

ciliary body hypoplasia ( J:161793 )

• hypoplastic at E18.5

iris stroma hypoplasia ( J:161793 )

• at E18.5

irregularly shaped pupil ( J:161793 )

• at E18.5

abnormal cornea morphology ( J:161793 )

corneal vascularization ( J:161793 )

• blood vessels are present in the corneal stroma

abnormal corneal stroma morphology ( J:161793 )

• less dense

• blood vessels are present

decreased eye anterior chamber depth ( J:161793 )

• decrease in anterior chamber depth

abnormal lens epithelium morphology ( J:161793 )

• thickened

microphthalmia ( J:161793 )

• at E18.5

cardiovascular system

corneal vascularization ( J:161793 )

• blood vessels are present in the corneal stroma

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nail-patella syndrome		DOID:9467	OMIM:161200	J:95961