All Phenotypes Nrg1<tm3Cbm> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Nrg1^tm3Cbm
targeted mutation 3, Carmen Birchmeier
MGI:2447761

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Nrg1^tm1Cbm/Nrg1^tm3Cbm Isl2^tm1Arbr/Isl2⁺	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J	MGI:3723120
cn2	Nrg1^tm1Cbm/Nrg1^tm3Cbm Isl1^tm1(cre)Tmj/Isl1⁺	involves: 129P2/OlaHsd * 129X1/SvJ	MGI:2653523
cn3	Nrg1^tm3Cbm/Nrg1^tm3Cbm Tg(CAG-cre/Esr1*)5Amc/0	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:5524264

Allelic Composition	Nrg1^tm1Cbm/Nrg1^tm3Cbm Isl2^tm1Arbr/Isl2⁺
Genetic Background	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl2^tm1Arbr mutation (1 available); any Isl2 mutation (28 available)
Nrg1^tm1Cbm mutation (0 available); any Nrg1 mutation (54 available)
Nrg1^tm3Cbm mutation (0 available); any Nrg1 mutation (54 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:69623 )

• ~90% of mice die at birth, with phenotype similar to Nrg1^tm1Cbm homozygous embryos

nervous system

absent Schwann cells ( J:69623 )

• Schwann cells are absent from intramuscular motor axons between E13.5-E16.5

abnormal nervous system development ( J:69623 )

abnormal motor neuron morphology ( J:69623 )

• motor neurons are defasciculated and disorganized

abnormal motor neuron innervation pattern ( J:69623 )

• in developing muscle, motor axons largely retract by birth; by E18.5, motor axons and terminals are absent

abnormal neuromuscular synapse morphology ( J:69623 )

• at diaphragm synapses, band of acetylcholine receptors (AChRs) is wider (17.5% of muscle length) than in wild-type muscle (7% of muscle length)

Allelic Composition	Nrg1^tm1Cbm/Nrg1^tm3Cbm Isl1^tm1(cre)Tmj/Isl1⁺
Genetic Background	involves: 129P2/OlaHsd * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1^tm1(cre)Tmj mutation (0 available); any Isl1 mutation (36 available)
Nrg1^tm1Cbm mutation (0 available); any Nrg1 mutation (54 available)
Nrg1^tm3Cbm mutation (0 available); any Nrg1 mutation (54 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

muscle

abnormal muscle spindle morphology ( J:80793 )

• mutants exhibit a defect in muscle spindle differentiation in the dorsal root ganglion and motor neurons

nervous system

abnormal muscle spindle morphology ( J:80793 )

• mutants exhibit a defect in muscle spindle differentiation in the dorsal root ganglion and motor neurons

decreased Schwann cell number ( J:80793 )

• selective absence of Schwann cells at E16.5 in adductor and gracilis muscles but not in other muscles

abnormal proprioceptive neuron morphology ( J:80793 )

• parvalbumin+ proprioceptive terminals at muscle spindles remain primitive and unbranched at E18.5

• parvalbumin+ proprioceptive afferents are present in E16.5 hindlimb muscles and initiate contact with individual myofibers, but they do not develop annulospiral branches around the myofibers

• however, survival and initial differentiation of proprioceptive afferent sensory neurons is not impaired

Allelic Composition	Nrg1^tm3Cbm/Nrg1^tm3Cbm Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nrg1^tm3Cbm mutation (0 available); any Nrg1 mutation (54 available)
Tg(CAG-cre/Esr1*)5Amc mutation (10 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

muscle

abnormal muscle spindle morphology ( J:199150 )

• small diameter with degeneration of the outer capsule in tamoxifen-treated mice

• however, innervation is normal

decreased muscle spindle number ( J:199150 )

• in tamoxifen-treated mice

behavior/neurological

impaired coordination ( J:199150 )

• tamoxifen-treated mice hang on to an inverted grid 3 to 4 times less than controls mice

• strongly impaired in a beam-walking test

nervous system

abnormal muscle spindle morphology ( J:199150 )

• small diameter with degeneration of the outer capsule in tamoxifen-treated mice

• however, innervation is normal

decreased muscle spindle number ( J:199150 )

• in tamoxifen-treated mice

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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