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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Lifrtm1Imx
targeted mutation 1, Immunex
MGI:1857213
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Lifrtm1Imx/Lifrtm1Imx B6;129S7-Lifrtm1Imx/J MGI:6093713
hm2
Lifrtm1Imx/Lifrtm1Imx involves: 129P3/J * 129S7/SvEvBrd * C57BL/6 MGI:3768428
ht3
Lifrtm1Imx/Lifr+ B6;129S7-Lifrtm1Imx/J MGI:6094214


Genotype
MGI:6093713
hm1
Allelic
Composition
Lifrtm1Imx/Lifrtm1Imx
Genetic
Background
B6;129S7-Lifrtm1Imx/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lifrtm1Imx mutation (1 available); any Lifr mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than the expected number (18.7% vs. 25%) of fetuses are seen at E18.5

growth/size/body
• small size at E18.5

endocrine/exocrine glands
• 100% of fetuses show a ligamentous tethering of the testis to the dorsal aorta impairing testicular descent, indicating cryptorchidism

renal/urinary system
• 70% of fetuses show ureter and kidney anomalies at E18.5, with 10% having severe and 60% having milder anomalies
• various abnormalities are seen in fetuses, including mild or severe hydronephrosis, a dilated renal collecting system, blind-ending ureter, hydroureter, microcystically dilated tubules, and ureter ectopia
• 10% of fetuses exhibit renal dysplasia
• reduction of glomerular number per kidney volume and glomerular volume
• E15.5 kidney shows a reduction of comma shaped bodies, premature glomeruli, and all glomerular developmental stages per kidney section
• in a subset of mutants
• kidney size is reduced at E15.5
• in a subset of mutants
• nephron number is reduced at E15.5
• reduction of the proximal, medial and distal ureteric lumen at E18.5
• hypertrophy of the distal ureter wall
• thickness of the ureteric smooth muscle layer and the urothelium are increased
• in a subset of mutants
• in a subset of mutants
• 10% of E18.5 fetuses exhibit severe hydroureter

reproductive system
• 100% of fetuses show a ligamentous tethering of the testis to the dorsal aorta impairing testicular descent, indicating cryptorchidism

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
CAKUT DOID:0080205 OMIM:PS610805
J:242320




Genotype
MGI:3768428
hm2
Allelic
Composition
Lifrtm1Imx/Lifrtm1Imx
Genetic
Background
involves: 129P3/J * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lifrtm1Imx mutation (1 available); any Lifr mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice born vaginally or by Caesarian section die within hours of birth with no milk in their stomachs even when placed with foster mothers
• fewer than expected mice are recovered at E3.5

skeleton
• the number of osteoclasts is increased 6-fold (0.4+/-0.1 osteoclasts per mm3 compared to 0.3+/-0.2 osteoclasts per mm3 in wild-type mice)
• the number of osteoclast surfaces is increased 7-fold (4.1+/-0.6% compared to 0.6+/-0.3% in wild-type mice)
• bone density is lost at the proximal and distal ends of the long bones and metacarpi
• bone density is lost at the proximal and distal ends of the long bones and metacarpi
• bone density is lost at the proximal and distal ends of the long bones and metacarpi
• bones are osteopenic
• bone volume is reduced greater than 3-fold (4.8+/-0.6% compared to 13.4+/-0.9% in wild-type mice)

nervous system
• at E17.5 to E18.5, the number of GFAP+ astrocytes in the spine and brainstem is decreased compared to in wild-type mice
• E20.5 dorsal root ganglia neurons do not survive in culture when exposed to cytokines that rely on LIFR to mediate their signal unlike wild-type cells

embryo
• placenta contain more blood pooling than in wild-type mice and are edematous with large fluid-filled spaces and a lack of organization into distinct spongio- and labyrinthine trophoblast zones
• at E17.5, placenta contain excess fibrin in association with the blood lacunae and marginated leukocytes can be detected in some of these enlarged maternal blood spaces
• at E17.5, the lacy appearance of the normal labyrinthine placenta is lost
• however, fetal hematopoiesis is normal

homeostasis/metabolism
• at E18.5, fetal livers contain higher stores of glycogen than in wild-type mice

growth/size/body
• some mice are smaller at birth

immune system
• the number of osteoclasts is increased 6-fold (0.4+/-0.1 osteoclasts per mm3 compared to 0.3+/-0.2 osteoclasts per mm3 in wild-type mice)
• the number of osteoclast surfaces is increased 7-fold (4.1+/-0.6% compared to 0.6+/-0.3% in wild-type mice)

hematopoietic system
• the number of osteoclasts is increased 6-fold (0.4+/-0.1 osteoclasts per mm3 compared to 0.3+/-0.2 osteoclasts per mm3 in wild-type mice)
• the number of osteoclast surfaces is increased 7-fold (4.1+/-0.6% compared to 0.6+/-0.3% in wild-type mice)

limbs/digits/tail
• bone density is lost at the proximal and distal ends of the long bones and metacarpi

liver/biliary system
• at E18.5, fetal livers contain higher stores of glycogen than in wild-type mice




Genotype
MGI:6094214
ht3
Allelic
Composition
Lifrtm1Imx/Lifr+
Genetic
Background
B6;129S7-Lifrtm1Imx/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lifrtm1Imx mutation (1 available); any Lifr mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• 42.5% of fetuses show a ligamentous tethering of the testis to the dorsal aorta impairing testicular descent, indicating cryptorchidism

renal/urinary system
• reduction of the proximal, medial and distal ureteric lumen at E18.5, but to a lesser extent than in homozygotes
• 5% of E18.5 fetuses exhibit severe hydroureter

reproductive system
• 42.5% of fetuses show a ligamentous tethering of the testis to the dorsal aorta impairing testicular descent, indicating cryptorchidism





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)
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last database update
08/13/2019
MGI 6.14
The Jackson Laboratory