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Phenotypes Associated with This Genotype
Genotype
MGI:2677019
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/?
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (34 available); any Grm7 mutation (125 available)
Smn1tm1Msd mutation (37 available); any Smn1 mutation (87 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• in few cases, mice of this genotype survived up to 6 days of age
• the majority of mice were stillborn or died within 6 hours of birth
• a slightly less than expected frequency of mice with this genotype suggests that some mice may be dying in utero
• in few cases, mice of this genotype survived up to 6 days of age

behavior/neurological
• mice that survived 4-6 days displayed a decrease or lack of suckling by 48 hours postnatal
• mice that survived 4-6 days showed a marked tremor within 72-96 hours postnatal
• mice that survived 4-6 days showed a decrease in movement within 48-72 hours postnatal

muscle
N
• no musculature atrophy was detected in the quadriceps or gastrocnemius of mice that survived 4-6 days

respiratory system
• mice that survived 4-6 days displayed labored breathing by 48 hours postnatal

nervous system
• dramatic loss of motor neurons were observed in spinal cord (~35% loss) and facial nucleus(~40% loss) at postnatal day 5
• normal numbers of motor neurons were observed in spinal cord and facial nucleus in animals at postnatal day 1

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Werdnig-Hoffmann disease DOID:13137 OMIM:253300
J:60592


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
11/12/2024
MGI 6.24
The Jackson Laboratory