Lmx1b^tm4.1Rjo
Targeted Allele Detail

Summary

• Symbol: Lmx1b^tm4.1Rjo
• Name: LIM homeobox transcription factor 1 beta; targeted mutation 4.1, Randy L Johnson
• MGI ID: MGI:3714802
• Synonyms: Lmx1b^tm1Witz, Lmxb1^lox
• Gene: Lmx1b Location: Chr2:33450977-33530620 bp, - strand Genetic Position: Chr2, 22.48 cM
• Alliance: Lmx1b^tm4.1Rjo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:122505
• Parent Cell Line: AB1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1⁺

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: LoxP sites were inserted into introns 4 and 6, flanking sequence that encodes the homeodomain. The construct also contains a loxP-flanked neomycin selection cassette. A Cre expression plasmid was used to remove the floxed neo cassette. (J:122505)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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cn1	Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo Pitx2^tm4(cre)Jfm/Pitx2^+	involves: 129S7/SvEvBrd
cn2	Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo Tg(CAG-cre/Esr1*)5Amc/0	involves: 129S7/SvEvBrd * C57BL/6 * CBA
cn3	Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6J * CBA/J
cn4  Disease Model	Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo Tg(NPHS2-cre)295Lbh/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL

Phenotypes:

Affected Systems	cn1	cn2	cn3	cn4
show or hide all annotated terms
behavior/neurological		√
lethargy		√
cardiovascular system		√	√
cornea vascularization		√	√
homeostasis/metabolism				√
albuminuria				√
mortality/aging				√
postnatal lethality, complete penetrance				√
muscle	√
abnormal intraocular muscle morphology	√
renal/urinary system		√		√
albuminuria				√
abnormal podocyte foot process morphology				√
podocyte foot process effacement				√
absent podocyte slit diaphragm				√
increased renal glomerulus basement membrane thickness				√
abnormal renal glomerulus morphology				√
glomerulosclerosis				√
renal glomerular synechia				√
dilated renal tubule		√		√
renal cast				√
kidney degeneration		√
kidney failure		√		√
vision/eye	√	√	√
abnormal intraocular muscle morphology	√
abnormal iridocorneal angle	√
absent trabecular meshwork	√
absent ciliary body	√
ciliary body hypoplasia			√
irregularly shaped pupil	√		√
iris hypoplasia	√
iris stroma hypoplasia			√
abnormal cornea morphology	√	√	√
cornea vascularization		√	√
abnormal cornea endothelium morphology	√
decreased cornea epithelium thickness		√
abnormal cornea stroma morphology			√
cornea opacity	√	√
decreased eye anterior chamber depth			√
abnormal lens morphology	√
abnormal lens epithelium morphology	√		√
small lens	√
microphthalmia	√		√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cn4
nail-patella syndrome IDs nail-patella syndrome       DOID:9467 ICD10CM:Q87.2 MESH:D009261 NCI:C75120 OMIM:161200 ORDO:2614 UMLS_CUI:C0027341 Close	√

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	15 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Lmx1b Mutation: 16 strains or lines available

References

• Original: J:122505 Suleiman H, et al., The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes. Dev Biol. 2007 Apr 15;304(2):701-12
• All: 7 reference(s)