Mouse Genome Informatics
hm1
    Lrp4tm2Her/Lrp4tm2Her
involves: 129S/SvEv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• exhibit folded enamel and dentin on the labial side
• lingual surfaces of the incisors are also very uneven, with protrusions producing a "corrugated" appearance
• the lingual portion shows a discontinuity in the epithelium and the apical edge resembles an epithelial root sheath normally seen only in developing molar tooth roots
• exhibit supernumerary maxillary incisor tooth germs at birth
• have extra molar cusps

growth/size/body
• exhibit folded enamel and dentin on the labial side
• lingual surfaces of the incisors are also very uneven, with protrusions producing a "corrugated" appearance
• the lingual portion shows a discontinuity in the epithelium and the apical edge resembles an epithelial root sheath normally seen only in developing molar tooth roots
• exhibit supernumerary maxillary incisor tooth germs at birth
• have extra molar cusps


Mouse Genome Informatics
hm2
    Lrp4tm2Her/Lrp4tm2Her
involves: 129S/SvEv * C57BL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• homozygotes exhibit immediate post-partum lethality due to neuromuscular junction defects

renal/urinary system
• at P0, homozygotes display subpenetrant renal agenesis with rudimentary ureters
• kidney agenesis involves only structures derived from the ureteric bud and metanephric mesenchyme
• the small number of kidneys that do form appear morphologically normal
• the lower urinary and genital systems of both male and female homozygotes remain intact
• at E12.5, the metanephric mesenchyme is absent, unlike in wild-type mice
• 51% of homozygotes display bilateral renal agenesis
• 22% of homozygotes display unilateral renal agenesis
• at P0, homozygotes display bilateral or unilateral renal agenesis with rudimentary ureters
• all newborn homozygotes display at least a partial ureter
• only 12.5% (1/8) of 38 somite stage newborn homozygotes have formed a ureteric bud relative to 100% of wild type controls, indicating a delay in ureteric bud formation
• the ureteric bud fails to undergo secondary branching
• experssion of several branching regulators is lost by E12.5, unlike in wild-type mice
• at E11.5, the ureteric bud fails to invade the metanephric mesenchyme and form a T-shape
• mesenchymal expression of Pax2 is lost by E12.5, unlike in wild-type mice

nervous system
• homozygotes die of neuromuscular junction defects

Mouse Models of Human Disease
OMIM IDRef(s)
Cenani-Lenz Syndactyly Syndrome; CLSS 212780 J:160547


Mouse Genome Informatics
hm3
    Lrp4tm2Her/Lrp4tm2Her
involves: 129S/SvEvBrd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

nervous system
• complete failure to form neuromuscular junctions