Phenotypes Associated with This Genotype

Genotype
MGI:5475333

• Allelic Composition: Lmx1a^mtl/Lmx1a^mtl
• Genetic Background: involves: 129S5/SvEvBrd

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

Small size, shorter tails, and white belly patches in Lmx1a^bsd/Lmx1a^bsd and Lmx1a^mtl/Lmx1a^mtl mice

hearing/vestibular/ear

abnormal otic vesicle development ( J:194385 )

• epithelium is irregular and at sites of epithelial thickening wavy and uneven at E11.5

abnormal inner ear morphology ( J:194385 )

• appears as a cyst-like structure with a continuous lumen in embryonic and newborn mice

abnormal cochlear inner hair cell morphology ( J:194385 )

• uneven organization

short scala media ( J:194385 )

absent semicircular canals ( J:194385 )

abnormal vestibular labyrinth morphology ( J:194385 )

• fails to form

abnormal utricle morphology ( J:194385 )

• malformed utriculo-saccular domain

abnormal vestibular saccule morphology ( J:194385 )

• malformed utriculo-saccular domain

dilated endolymphatic duct ( J:194385 )

dilated endolymphatic sac ( J:194385 )

absent otoliths ( J:194385 )

increased or absent threshold for auditory brainstem response ( J:194385 )

• absent

deafness ( J:194385 )

behavior/neurological

absent pinna reflex ( J:194385 )

impaired righting response ( J:194385 )

abnormal placing response ( J:194385 )

• impaired

head tossing ( J:194385 )

hyperactivity ( J:194385 )

integument

belly spot ( J:194385 )

• variable sized white belly patch

limbs/digits/tail

short tail ( J:194385 )

nervous system

abnormal cochlear inner hair cell morphology ( J:194385 )

• uneven organization

pigmentation

belly spot ( J:194385 )

• variable sized white belly patch