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Phenotypes Associated with This Genotype
Genotype
MGI:6286056
Allelic
Composition
Dis3l2em1Jtm/Dis3l2em1Jtm
Genetic
Background
C57BL/6J-Dis3l2em1Jtm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dis3l2em1Jtm mutation (1 available); any Dis3l2 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fully penetrant perinatal lethality, with no mice surviving the first postnatal day

behavior/neurological

renal/urinary system
• mice exhibit highly penetrant genitourinary abnormalities, including hydroureter, hydronephrosis, and prematurely filled bladders
• however, kidney development appears overtly normal at E18.5 and no neoplasms or Wilms tumor are seen
• 91% penetrance at E18.5
• 70% penetrance at E18.5
• 100% penetrance of prematurely filled bladders at E18.5

respiratory system
• caesarean delivered pups at E18.5 fail to initiate respiration, resulting in underinflated lungs and rapid death

skeleton
• abnormal curvature of the lumbar spine

growth/size/body
N
• overgrowth of E18.5 mice is not seen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Perlman syndrome DOID:0060476 OMIM:267000
J:272435


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
01/31/2023
MGI 6.22
The Jackson Laboratory