Phenotypes associated with this allele

• Allele Symbol: Lmx1b^tm4.1Rjo
• Allele Name: targeted mutation 4.1, Randy L Johnson
• Allele ID: MGI:3714802
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo Pitx2^tm4(cre)Jfm/Pitx2^+	involves: 129S7/SvEvBrd	MGI:4818572
cn2	Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo Tg(CAG-cre/Esr1*)5Amc/0	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:4818573
cn3	Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6J * CBA/J	MGI:4818571
cn4	Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo Tg(NPHS2-cre)295Lbh/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3715141

Genotype
MGI:4818572

cn1

• Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo; Pitx2^tm4(cre)Jfm/Pitx2⁺
• Genetic Background: involves: 129S7/SvEvBrd

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

vision/eye

abnormal intraocular muscle morphology ( J:161793 )

• expression analysis indicates the absence of sphincter and dilator muscles in the iris

abnormal iridocorneal angle ( J:161793 )

• angle closure

absent trabecular meshwork ( J:161793 )

absent ciliary body ( J:161793 )

• not detectable

irregularly shaped pupil ( J:161793 )

• at P13

iris hypoplasia ( J:161793 )

abnormal cornea morphology ( J:161793 )

abnormal cornea endothelium morphology ( J:161793 )

• decrease in the amount of corneal endothelial tissue

cornea opacity ( J:161793 )

• at P13

abnormal lens morphology ( J:161793 )

abnormal lens epithelium morphology ( J:161793 )

• thickened

small lens ( J:161793 )

• about 20% smaller relative to overall eye size

microphthalmia ( J:161793 )

• in about 25% of mice at 3 weeks of age

muscle

abnormal intraocular muscle morphology ( J:161793 )

• expression analysis indicates the absence of sphincter and dilator muscles in the iris

Genotype
MGI:4818573

cn2

• Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo; Tg(CAG-cre/Esr1*)5Amc/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

vision/eye

abnormal cornea morphology ( J:161793 )

• sparsely distributed corneal keratocytes, disorganized collagen fibrils, and wavy lamellae by 4 weeks after tamoxifen treatment

cornea vascularization ( J:161793 )

• by 4 weeks after tamoxifen treatment

decreased cornea epithelium thickness ( J:161793 )

• thinner by 4 weeks after tamoxifen treatment

cornea opacity ( J:161793 )

• corneas become cloudy by 4 weeks after tamoxifen treatment

renal/urinary system

dilated renal tubule ( J:161793 )

• dilated tubules filled with eosinophilic material are seen after tamoxifen treatment

kidney degeneration ( J:161793 )

• a severe degenerative phenotype with dilated tubules filled with eosinophilic material develops after tamoxifen treatment

kidney failure ( J:161793 )

• develops after tamoxifen treatment

behavior/neurological

lethargy ( J:161793 )

• develops several weeks after tamoxifen treatment

cardiovascular system

cornea vascularization ( J:161793 )

• by 4 weeks after tamoxifen treatment

Genotype
MGI:4818571

cn3

• Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J

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

• less severe than in Lmxb1^tm1Rjo homozygous mice

abnormal cornea morphology ( J:161793 )

cornea vascularization ( J:161793 )

• blood vessels are present in the corneal stroma

abnormal cornea 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

cornea vascularization ( J:161793 )

• blood vessels are present in the corneal stroma

Genotype
MGI:3715141

cn4

• Allelic Composition: Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo; Tg(NPHS2-cre)295Lbh/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:122505 )

• most mice do not live past 14 days after birth

renal/urinary system

albuminuria ( J:122505 )

• severe within 5 days postnatal

abnormal podocyte foot process morphology ( J:122505 )

• loss of podocyte foot processes is observed at 5 days, becoming more prominent by 11 days after birth

podocyte foot process effacement ( J:122505 )

• foot process effacement is apparent by 11 days after birth

absent podocyte slit diaphragm ( J:122505 )

• loss of slit diaphragms between podocytes is observed by 11 days after birth

increased renal glomerulus basement membrane thickness ( J:122505 )

• thickening of the glomerular basement membrane is observed by 11 days after birth

abnormal renal glomerulus morphology ( J:122505 )

glomerulosclerosis ( J:122505 )

• by 11 days after birth, kidneys develop a focal-segmental glomerulosclerosis

renal glomerular synechia ( J:122505 )

• adhesions between the glomerular tuft and Bowman's capsule are seen in kidneys at 11 days

dilated renal tubule ( J:122505 )

• occasional dilated tubular profiles at 5 days of age

renal cast ( J:122505 )

• occasional dilated tubules filled with an eosinophilic, probably proteinaceous material at 5 days of age

kidney failure ( J:122505 )

• mice die from renal failure

homeostasis/metabolism

albuminuria ( J:122505 )

• severe within 5 days postnatal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nail-patella syndrome		DOID:9467	OMIM:161200	J:122505