Phenotypes Associated with This Genotype

Genotype
MGI:2677374

• Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo
• Genetic Background: involves: 129 * C57BL/6

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

Lmx1b^tm1Rjo/Lmx1b^tm1Rjo newborns display multiple abnormalities in ocular tissues

mortality/aging

neonatal lethality, complete penetrance ( J:47316 )

• all dead within 24 hours after birth

behavior/neurological

abnormal suckling behavior ( J:47316 )

• failure to suckle

craniofacial

abnormal cranial suture morphology ( J:48536 )

• no indication of divisions (sutures) between calvarial bones in newborns

abnormal fontanelle morphology ( J:48536 )

• in newborn mice, fontanelles absent at midline intersection of frontal and parietal ossification centers and parietal and interparietal bones

abnormal interparietal bone morphology ( J:48536 )

• undeveloped and abnormally fused to parietal bone

absent supraoccipital bone ( J:48536 )

embryo

abnormal developmental patterning ( J:47316 )

• of the limbs and feet, dorsal-ventral patterning is lost

limbs/digits/tail

absent ulna ( J:47316 )

absent patella ( J:47316 )

renal/urinary system

abnormal renal glomerulus basement membrane morphology ( J:47316 )

• thickened basement membrane, with occasional areas of discontinuity

increased renal glomerulus basement membrane thickness ( J:47316 )

skeleton

abnormal cranial suture morphology ( J:48536 )

• no indication of divisions (sutures) between calvarial bones in newborns

abnormal fontanelle morphology ( J:48536 )

• in newborn mice, fontanelles absent at midline intersection of frontal and parietal ossification centers and parietal and interparietal bones

abnormal interparietal bone morphology ( J:48536 )

• undeveloped and abnormally fused to parietal bone

absent supraoccipital bone ( J:48536 )

absent ulna ( J:47316 )

absent patella ( J:47316 )

abnormal pectoral girdle bone morphology ( J:47316 )

abnormal clavicle morphology ( J:47316 )

• abnormally bent, projecting along surface of scapula, rather than away from it

small scapula ( J:47316 )

• smaller than wild-type controls

absent ilium ( J:47316 )

abnormal cartilage development ( J:48536 )

• reductions in size of cartilaginous precursors of calvarial bones

vision/eye

abnormal anterior eye segment morphology ( J:60307 )

abnormal ciliary body morphology ( J:60307 )

• lacked ciliary folds

• stromal hypoplasia

abnormal iris stroma morphology ( J:60307 )

• hypoplastic

irregularly shaped pupil ( J:60307 )

abnormal cornea stroma morphology ( J:60307 )

• less compact than normal

• ectopic blood vessels evident

decreased eye anterior chamber depth ( J:60307 )

• reduction in anterior chamber depth

abnormal lens epithelium morphology ( J:60307 )

• epithelial cells lack normal cuboidal morphology

microphthalmia ( J:60307 )

integument

absence of all nails ( J:47316 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nail-patella syndrome		DOID:9467	OMIM:161200	J:47316