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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 (38 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 (32 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 (20 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 (9 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
• blood vessels are present
• less dense
• 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 (20 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 (20 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 (20 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 (20 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





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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory