About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Lmx1btm1Rjo
targeted mutation 1, Randy L Johnson
MGI:2158463
Summary 18 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Lmx1btm1Rjo/Lmx1btm1Rjo involves: 129 * C57BL/6 MGI:2677374
hm2
Lmx1btm1Rjo/Lmx1btm1Rjo involves: 129S7/SvEvBrd MGI:3052222
hm3
Lmx1btm1Rjo/Lmx1btm1Rjo involves: 129S7/SvEvBrd * C57BL/6 MGI:3716366
hm4
Lmx1btm1Rjo/Lmx1btm1Rjo involves: 129S7/SvEvBrd * C57BL/6J MGI:5287987
hm5
Lmx1btm1Rjo/Lmx1btm1Rjo involves: C57BL/6 MGI:2677677
hm6
Lmx1btm1Rjo/Lmx1btm1Rjo Not Specified MGI:2677679
cn7
Lmx1btm1Rjo/Lmx1btm4.1Rjo
Pitx2tm4(cre)Jfm/Pitx2+
involves: 129S7/SvEvBrd MGI:4818572
cn8
Lmx1btm1Rjo/Lmx1btm1Zfc
Sox9tm3(cre)Crm/Sox9+
involves: 129S7/SvEvBrd MGI:4441202
cn9
Lmx1adr-J/Lmx1adr-J
Lmx1btm1Rjo/Lmx1btm1Zfc
Tg(Lmx1a-cre)1Kjmi/0
involves: 129S7/SvEvBrd * C3HeB/Fe * C57BL/6 MGI:4359810
cn10
Lmx1btm1Rjo/Lmx1btm1Zfc
Tg(Lmx1a-cre)1Kjmi/0
involves: 129S7/SvEvBrd * C3HeB/Fe * C57BL/6 MGI:4359811
cn11
Lmx1btm1Rjo/Lmx1btm1Zfc
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S7/SvEvBrd * C57BL/6 * CBA MGI:3697386
cn12
Lmx1btm1Rjo/Lmx1btm4.1Rjo
Tg(CAG-cre/Esr1*)5Amc/0
involves: 129S7/SvEvBrd * C57BL/6 * CBA MGI:4818573
cn13
Lmx1btm1Rjo/Lmx1btm4.1Rjo
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S7/SvEvBrd * C57BL/6J * CBA/J MGI:4818571
cn14
Lmx1btm1Rjo/Lmx1btm1Zfc
Tg(Prrx1-cre)1Cjt/0
involves: 129S7/SvEvBrd * C57BL/6J * SJL/J MGI:4441203
cx15
Lmx1adr-J/Lmx1adr-J
Lmx1btm1Rjo/Lmx1btm1Rjo
involves: 129S7/SvEvBrd * C3HeB/Fe * C57BL/6 MGI:4359809
cx16
Lmx1atm1Ics/Lmx1atm1Ics
Lmx1btm1Rjo/Lmx1btm1Rjo
involves: 129S7/SvEvBrd * C57BL/6J MGI:5287988
cx17
Lmx1atm1Ics/Lmx1a+
Lmx1btm1Rjo/Lmx1b+
involves: 129S7/SvEvBrd * C57BL/6J MGI:5287989
cx18
Lmx1atm1Ics/Lmx1atm1Ics
Lmx1btm1Rjo/Lmx1b+
involves: 129S7/SvEvBrd * C57BL/6J MGI:5287990


Genotype
MGI:2677374
hm1
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm1Rjo
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Lmx1btm1Rjo/Lmx1btm1Rjo newborns display multiple abnormalities in ocular tissues

mortality/aging
• all dead within 24 hours after birth

behavior/neurological
• failure to suckle

craniofacial
• no indication of divisions (sutures) between calvarial bones in newborns
• in newborn mice, fontanelles absent at midline intersection of frontal and parietal ossification centers and parietal and interparietal bones
• undeveloped and abnormally fused to parietal bone

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

limbs/digits/tail

renal/urinary system
• thickened basement membrane, with occasional areas of discontinuity

skeleton
• no indication of divisions (sutures) between calvarial bones in newborns
• in newborn mice, fontanelles absent at midline intersection of frontal and parietal ossification centers and parietal and interparietal bones
• undeveloped and abnormally fused to parietal bone
• abnormally bent, projecting along surface of scapula, rather than away from it
• smaller than wild-type controls
• reductions in size of cartilaginous precursors of calvarial bones

vision/eye
• lacked ciliary folds
• stromal hypoplasia
• less compact than normal
• ectopic blood vessels evident
• reduction in anterior chamber depth
• epithelial cells lack normal cuboidal morphology

integument

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




Genotype
MGI:3052222
hm2
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm1Rjo
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• small rhombomere 1 with fewer proliferating cells at E10.5
• slight increase in the number of apoptotic cells at the 7 somite stage and a more significant increase at the 13 somite stage
• at E10.5 and E12.5, the constriction at the midbrain-hindbrain boundary is absent
• fused to the cerebellum
• at E18.5 and P0
• fewer proliferating cells are found at E10.5
• the pretectal region extends further caudally
• the cerebral cortex extend further caudally
• the medial portion is absent and the remainder is fused to the superior colliculus
• at E18.5 and P0
• impaired development of laminae I and II neurons appears to delay the innervation of primary cutaneous afferents
• at E14.5, Trk+ fibers (nociceptive sensory neurons) have not migrated into the dorsal laminae and by E17.5, fibers have migrated but in a disorganized manner

embryo
• small rhombomere 1 with fewer proliferating cells at E10.5

vision/eye
• hypoplastic at E18.5
• blood vessels are present in the corneal stroma
• less dense
• blood vessels are present
• decrease in anterior chamber depth
• at E18.5

cardiovascular system
• blood vessels are present in the corneal stroma

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nail-patella syndrome DOID:9467 OMIM:161200
J:95961




Genotype
MGI:3716366
hm3
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm1Rjo
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• laminar boundaries are impaired
• development of laminae I and II neurons is impaired
• innervation of primary cutaneous afferents is delayed
• migration of TrkA+ fibers is disorganized

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nail-patella syndrome DOID:9467 OMIM:161200
J:95961




Genotype
MGI:5287987
hm4
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm1Rjo
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• size of the dopaminergic neuron progenitor domain is reduced
• remaining progenitors are mainly located in the medially
• almost complete loss of ocular motor neurons at E12.5
• size of the dopaminergic neuron (DN) progenitor domain is reduced
• remaining DN progenitors are mainly located in the medially
• most DN progenitor cells fail to initiate expression of late DN markers
• increase in the number of red nucleus neurons at E12.5




Genotype
MGI:2677677
hm5
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm1Rjo
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Retarded development of the glomerular capillaries in Lmx1btm1Rjo/Lmx1btm1Rjo mice

renal/urinary system
• impaired differentiation
• retained cuboidal shape
• failed to form foot processes
• failed to form slit diaphragms
• glomerular basement membrane split
• delayed development
• smaller glomerular tuft area than wild-type or heterozygous controls
• capillary network poorly developed
• severely retarded outgrowth of glomerular capillaries
• capillary endothelial cells are less fenestrated
• reduction or even complete lack of fenestrae in the capillary endothelium
• smaller than wild-type littermates

cardiovascular system
• severely retarded outgrowth of glomerular capillaries
• capillary endothelial cells are less fenestrated
• reduction or even complete lack of fenestrae in the capillary endothelium




Genotype
MGI:2677679
hm6
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm1Rjo
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Podocyte abnormalities in Lmx1btm1Rjo/Lmx1btm1Rjo mice

renal/urinary system
• impaired differentiation
• retained cuboidal shape
• reduced numbers of foot processes
• fail to form slit diaphragm




Genotype
MGI:4818572
cn7
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm4.1Rjo
Pitx2tm4(cre)Jfm/Pitx2+
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
Lmx1btm4.1Rjo mutation (1 available); any Lmx1b mutation (16 available)
Pitx2tm4(cre)Jfm mutation (1 available); any Pitx2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• expression analysis indicates the absence of sphincter and dilator muscles in the iris
• angle closure
• not detectable
• decrease in the amount of corneal endothelial tissue
• at P13
• about 20% smaller relative to overall eye size
• in about 25% of mice at 3 weeks of age

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




Genotype
MGI:4441202
cn8
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm1Zfc
Sox9tm3(cre)Crm/Sox9+
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
Lmx1btm1Zfc mutation (0 available); any Lmx1b mutation (16 available)
Sox9tm3(cre)Crm mutation (1 available); any Sox9 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• mice exhibit normal dorsal tendons of the metacarpophalangeal joint
• mice exhibit partial duplication of sesamoid bones at the metacarpophalangeal joint compared with wild-type mice
• mice exhibit abnormal tips of the metacarpals

limbs/digits/tail
• mice exhibit partial duplication of sesamoid bones at the metacarpophalangeal joint compared with wild-type mice
• mice exhibit abnormal tips of the metacarpals




Genotype
MGI:4359810
cn9
Allelic
Composition
Lmx1adr-J/Lmx1adr-J
Lmx1btm1Rjo/Lmx1btm1Zfc
Tg(Lmx1a-cre)1Kjmi/0
Genetic
Background
involves: 129S7/SvEvBrd * C3HeB/Fe * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1adr-J mutation (1 available); any Lmx1a mutation (21 available)
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
Lmx1btm1Zfc mutation (0 available); any Lmx1b mutation (16 available)
Tg(Lmx1a-cre)1Kjmi mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• fourth ventricle roof plate size is dramatically smaller relative to wild-type or Lmx1a-null mice at E10.5
• P20 mice show severe cerebellar defects
• at E12.5, reduced proliferation is observed in the cerebellar anlage
• cerebellum is reduced in size




Genotype
MGI:4359811
cn10
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm1Zfc
Tg(Lmx1a-cre)1Kjmi/0
Genetic
Background
involves: 129S7/SvEvBrd * C3HeB/Fe * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
Lmx1btm1Zfc mutation (0 available); any Lmx1b mutation (16 available)
Tg(Lmx1a-cre)1Kjmi mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• rhombomere 1 roofplate is normal




Genotype
MGI:3697386
cn11
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm1Zfc
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
Lmx1btm1Zfc mutation (0 available); any Lmx1b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• severe reduction in size at P0
• severe reduction in size at P0




Genotype
MGI:4818573
cn12
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm4.1Rjo
Tg(CAG-cre/Esr1*)5Amc/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
Lmx1btm4.1Rjo mutation (1 available); any Lmx1b mutation (16 available)
Tg(CAG-cre/Esr1*)5Amc mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• sparsely distributed corneal keratocytes, disorganized collagen fibrils, and wavy lamellae by 4 weeks after tamoxifen treatment
• by 4 weeks after tamoxifen treatment
• thinner by 4 weeks after tamoxifen treatment
• corneas become cloudy by 4 weeks after tamoxifen treatment

renal/urinary system
• dilated tubules filled with eosinophilic material are seen after tamoxifen treatment
• a severe degenerative phenotype with dilated tubules filled with eosinophilic material develops after tamoxifen treatment
• develops after tamoxifen treatment

behavior/neurological
• develops several weeks after tamoxifen treatment

cardiovascular system
• by 4 weeks after tamoxifen treatment




Genotype
MGI:4818571
cn13
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm4.1Rjo
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
Lmx1btm4.1Rjo mutation (1 available); any Lmx1b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• hypoplastic at E18.5
• at E18.5
• less severe than in Lmxb1tm1Rjo homozygous mice
• blood vessels are present in the corneal stroma
• less dense
• blood vessels are present
• decrease in anterior chamber depth
• at E18.5

cardiovascular system
• blood vessels are present in the corneal stroma




Genotype
MGI:4441203
cn14
Allelic
Composition
Lmx1btm1Rjo/Lmx1btm1Zfc
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
Lmx1btm1Zfc mutation (0 available); any Lmx1b mutation (16 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• mice exhibit dorsal-to-ventral transformation of skeletal tissues compared with wild-type mice
• mice exhibit partial duplication of sesamoid bones at the metacarpophalangeal joint compared with wild-type mice
• mice exhibit dorsal sesamoid bones and dorsal cartilagenious protrusion of the metacarpal unlike in wild-type mice
• mice exhibit reduced tips of the metacarpals compared with wild-type mice
• the scaphoid, falciform, and pisiform are duplicated in a dorsal position unlike in wild-type mice
• mice exhibit dorsal-to-ventral transformation of tendon tissues compared with wild-type mice
• the dorsal tendon is round unlike in wild-type mice
• the dorsal flexure at the ankle is absent

muscle
• mice exhibit dorsal-to-ventral transformation of tendon tissues compared with wild-type mice
• the dorsal tendon is round unlike in wild-type mice

limbs/digits/tail
• mice exhibit less hair on the dorsal skin of the paw that resembles a footpad unlike in wild-type mice
• mice exhibit partial duplication of sesamoid bones at the metacarpophalangeal joint compared with wild-type mice
• mice exhibit dorsal sesamoid bones and dorsal cartilagenious protrusion of the metacarpal unlike in wild-type mice
• mice exhibit reduced tips of the metacarpals compared with wild-type mice
• the scaphoid, falciform, and pisiform are duplicated in a dorsal position unlike in wild-type mice




Genotype
MGI:4359809
cx15
Allelic
Composition
Lmx1adr-J/Lmx1adr-J
Lmx1btm1Rjo/Lmx1btm1Rjo
Genetic
Background
involves: 129S7/SvEvBrd * C3HeB/Fe * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1adr-J mutation (1 available); any Lmx1a mutation (21 available)
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• rhombomere 1 roofplate is normal




Genotype
MGI:5287988
cx16
Allelic
Composition
Lmx1atm1Ics/Lmx1atm1Ics
Lmx1btm1Rjo/Lmx1btm1Rjo
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1atm1Ics mutation (0 available); any Lmx1a mutation (21 available)
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die before E13.5




Genotype
MGI:5287989
cx17
Allelic
Composition
Lmx1atm1Ics/Lmx1a+
Lmx1btm1Rjo/Lmx1b+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1atm1Ics mutation (0 available); any Lmx1a mutation (21 available)
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• about a 20 - 25% reduction in the number of Nurr1- and Pitx3-expressing cells at E13.5 compared to wild-type or single heterozygous embryos




Genotype
MGI:5287990
cx18
Allelic
Composition
Lmx1atm1Ics/Lmx1atm1Ics
Lmx1btm1Rjo/Lmx1b+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1atm1Ics mutation (0 available); any Lmx1a mutation (21 available)
Lmx1btm1Rjo mutation (0 available); any Lmx1b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• dramatic reduction in the number of dopaminergic neurons at E13.5 compared to embryos homozygous for the Lmx1a allele alone





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/10/2024
MGI 6.24
The Jackson Laboratory