Lmx1b<tm1Rjo> Targeted Allele Detail MGI Mouse (MGI:2158463)

Lmx1b^tm1Rjo
Targeted Allele Detail

Summary

Symbol:	Lmx1b^tm1Rjo
Name:	LIM homeobox transcription factor 1 beta; targeted mutation 1, Randy L Johnson
MGI ID:	MGI:2158463
Synonyms:	Lmx1b-, Lmxb^neo
Gene:	Lmx1b Location: Chr2:33450977-33530620 bp, - strand Genetic Position: Chr2, 22.48 cM
Alliance:	Lmx1b^tm1Rjo page

Retarded development of the glomerular capillaries in Lmx1b^tm1Rjo/Lmx1b^tm1Rjo mice

Show the 6 phenotype image(s) involving this allele.

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:47316
Parent Cell Line:	AB1 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1⁺

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutations:		Insertion, Intragenic deletion
		Mutation details: A PGK-neomycin resistance cassette replaced about 5 kb of sequence including exons 3-7, which encode the second LIM domain, the homeodomain, and most of the carboxy-terminal region. RT-PCR analysis did not detect transcript from the region encoding the homeodomain in homozygous mutant 10 dpc embryos. (J:47316)

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)

	Allelic Composition	Genetic Background
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hm1 Disease Model	Lmx1b^tm1Rjo/Lmx1b^tm1Rjo	involves: 129 * C57BL/6
hm2 Disease Model	Lmx1b^tm1Rjo/Lmx1b^tm1Rjo	involves: 129S7/SvEvBrd
hm3 Disease Model	Lmx1b^tm1Rjo/Lmx1b^tm1Rjo	involves: 129S7/SvEvBrd * C57BL/6
hm4	Lmx1b^tm1Rjo/Lmx1b^tm1Rjo	involves: 129S7/SvEvBrd * C57BL/6J
hm5	Lmx1b^tm1Rjo/Lmx1b^tm1Rjo	involves: C57BL/6
hm6	Lmx1b^tm1Rjo/Lmx1b^tm1Rjo	Not Specified
cn7	Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo Pitx2^tm4(cre)Jfm/Pitx2⁺	involves: 129S7/SvEvBrd
cn8	Lmx1b^tm1Rjo/Lmx1b^tm1Zfc Sox9^tm3(cre)Crm/Sox9⁺	involves: 129S7/SvEvBrd
cn9	Lmx1b^tm1Rjo/Lmx1b^tm1Zfc Tg(Lmx1a-cre)1Kjmi/0	involves: 129S7/SvEvBrd * C3HeB/Fe * C57BL/6
cn10	Lmx1a^dr-J/Lmx1a^dr-J Lmx1b^tm1Rjo/Lmx1b^tm1Zfc Tg(Lmx1a-cre)1Kjmi/0	involves: 129S7/SvEvBrd * C3HeB/Fe * C57BL/6
cn11	Lmx1b^tm1Rjo/Lmx1b^tm1Zfc H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129S7/SvEvBrd * C57BL/6 * CBA
cn12	Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo Tg(CAG-cre/Esr1*)5Amc/0	involves: 129S7/SvEvBrd * C57BL/6 * CBA
cn13	Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129S7/SvEvBrd * C57BL/6J * CBA/J
cn14	Lmx1b^tm1Rjo/Lmx1b^tm1Zfc Tg(Prrx1-cre)1Cjt/0	involves: 129S7/SvEvBrd * C57BL/6J * SJL/J
cx15	Lmx1a^dr-J/Lmx1a^dr-J Lmx1b^tm1Rjo/Lmx1b^tm1Rjo	involves: 129S7/SvEvBrd * C3HeB/Fe * C57BL/6
cx16	Lmx1a^tm1Ics/Lmx1a⁺ Lmx1b^tm1Rjo/Lmx1b⁺	involves: 129S7/SvEvBrd * C57BL/6J
cx17	Lmx1a^tm1Ics/Lmx1a^tm1Ics Lmx1b^tm1Rjo/Lmx1b^tm1Rjo	involves: 129S7/SvEvBrd * C57BL/6J
cx18	Lmx1a^tm1Ics/Lmx1a^tm1Ics Lmx1b^tm1Rjo/Lmx1b⁺	involves: 129S7/SvEvBrd * C57BL/6J

Phenotypes:

Affected Systems	hm1	hm2	hm3	hm4	hm5	hm6	cn7	cn8	cn9	cn10	cn11	cn12	cn13	cn14	cx15	cx16	cx17	cx18
show or hide all annotated terms
behavior/neurological	√											√
lethargy												√
abnormal suckling behavior	√
cardiovascular system		√			√							√	√
abnormal glomerular capillary morphology					√
abnormal glomerular capillary endothelium morphology					√
absent glomerular endothelium fenestra					√
cornea vascularization		√										√	√
craniofacial	√
abnormal cranial suture morphology	√
abnormal fontanelle morphology	√
abnormal interparietal bone morphology	√
absent supraoccipital bone	√
embryo	√	√
abnormal developmental patterning	√
decreased rhombomere 1 size		√
integument	√
absence of all nails	√
limbs/digits/tail	√							√						√
abnormal foot pad morphology														√
absent ulna	√
absent patella	√													√
abnormal metacarpal bone morphology								√						√
mortality/aging	√																√
neonatal lethality, complete penetrance	√
embryonic lethality																	√
muscle							√							√
abnormal intraocular muscle morphology							√
abnormal tendon morphology														√
nervous system		√	√	√					N	√	√				√	√		√
nervous system phenotype									N
abnormal brain development		√
decreased rhombomere 1 size		√
abnormal cerebellum development										√
abnormal midbrain-hindbrain boundary development		√
absent midbrain-hindbrain boundary		√
abnormal fourth ventricle morphology										√					√
abnormal tectum morphology		√
abnormal superior colliculus morphology		√
decreased superior colliculus size		√
small tectum		√									√
abnormal pretectal region morphology		√
abnormal cerebral cortex morphology		√
abnormal cerebellum morphology		√								√
small cerebellum		√								√	√
abnormal neuron morphology			√
abnormal sensory neuron innervation pattern		√
abnormal dopaminergic neuron morphology				√
decreased dopaminergic neuron number																√		√
decreased motor neuron number				√
decreased neuronal precursor cell number				√
increased neuron number				√
renal/urinary system	√				√	√						√
abnormal podocyte morphology					√	√
abnormal podocyte foot process morphology						√
absent podocyte foot process					√
absent podocyte slit diaphragm					√	√
abnormal renal glomerulus basement membrane morphology	√				√
increased renal glomerulus basement membrane thickness	√
abnormal renal glomerulus morphology					√
abnormal glomerular capillary morphology					√
abnormal glomerular capillary endothelium morphology					√
absent glomerular endothelium fenestra					√
small kidney					√
dilated renal tubule												√
kidney degeneration												√
kidney failure												√
skeleton	√							√						√
skeleton phenotype								N
abnormal skeleton morphology														√
abnormal interparietal bone morphology	√
absent supraoccipital bone	√
absent ulna	√
absent patella	√													√
abnormal metacarpal bone morphology								√						√
abnormal tendon morphology														√
abnormal pectoral girdle bone morphology	√
abnormal clavicle morphology	√
small scapula	√
absent ilium	√
abnormal cartilage development	√
abnormal joint morphology														√
abnormal cranial suture morphology	√
abnormal fontanelle morphology	√
vision/eye	√	√					√					√	√
abnormal intraocular muscle morphology							√
abnormal anterior eye segment morphology	√
abnormal iridocorneal angle							√
absent trabecular meshwork							√
abnormal ciliary body morphology	√
absent ciliary body							√
ciliary body hypoplasia		√											√
abnormal iris stroma morphology	√
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	hm1	hm2	hm3
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:	96 assay results 4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	37 anatomical structure(s)

Find Mice (IMSR)

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

References

Original:	J:47316 Chen H, et al., Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet. 1998 May;19(1):51-5
All:	39 reference(s)

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