Phenotypes associated with this allele

• Allele Symbol: Erbb2^{tm3(Erbb2)Mul}
• Allele Name: targeted mutation 3, William Muller
• Allele ID: MGI:2449788
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Erbb2^tm3(Erbb2)Mul/Erbb2^tm3(Erbb2)Mul	involves: 129S1/Sv * 129X1/SvJ	MGI:2449943
cn2	Erbb2^tm3(Erbb2)Mul/Erbb2^tm3(Erbb2)Mul Tg(Ckmm-cre)5Khn/0	involves: 129S1/Sv * 129X1/SvJ * BALB/c * FVB	MGI:2449942
cn3	Erbb2^tm3(Erbb2)Mul/Erbb2^tm1Mll Tg(ACTA1-cre)1Mll/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2656909

Genotype
MGI:2449943

hm1

• Allelic Composition: Erbb2^{tm3(Erbb2)Mul}/Erbb2^{tm3(Erbb2)Mul}
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

muscle

absent primary muscle spindle ( J:81565 )

• this reduced number had no apparent effect on the motor capability of the animals

partial loss of secondary muscle spindle ( J:81565 )

• this reduced number had no apparent effect on the motor capability of the animals

nervous system

absent primary muscle spindle ( J:81565 )

• this reduced number had no apparent effect on the motor capability of the animals

partial loss of secondary muscle spindle ( J:81565 )

• this reduced number had no apparent effect on the motor capability of the animals

Genotype
MGI:2449942

cn2

• Allelic Composition: Erbb2^{tm3(Erbb2)Mul}/Erbb2^{tm3(Erbb2)Mul}; Tg(Ckmm-cre)5Khn/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * FVB

mortality/aging

premature death ( J:81565 )

• early mortality is observed in severely affected mutants

behavior/neurological

impaired coordination ( J:81565 )

• loss of coordination

impaired limb coordination ( J:81565 )

abnormal posture ( J:81565 )

• progressive with age, animals rest on abdomen instead of limbs

abnormal limb posture ( J:81565 )

• mutants often maintain limbs in an abnormal posture, progressing from a flexor to an extensor posture

abnormal gait ( J:81565 )

• progressive with age

craniofacial

malocclusion ( J:81565 )

growth/size/body

malocclusion ( J:81565 )

cachexia ( J:81565 )

muscle

increased myoblast apoptosis ( J:81565 )

• an increase in apoptosis is observed in mutant myoblasts infected with adenoviral-cre (to completely obliterate expression) during induced differentiation

absent primary muscle spindle ( J:81565 )

absent secondary muscle spindle ( J:81565 )

impaired skeletal muscle regeneration ( J:81565 )

• 2 weeks after a muscle crush injury in the tibialis anterior, muscle fibers that have regenerated are not continuous and are interspersed with encapsulated cellular debris

skeleton

malocclusion ( J:81565 )

nervous system

absent primary muscle spindle ( J:81565 )

absent secondary muscle spindle ( J:81565 )

cellular

increased myoblast apoptosis ( J:81565 )

• an increase in apoptosis is observed in mutant myoblasts infected with adenoviral-cre (to completely obliterate expression) during induced differentiation

Genotype
MGI:2656909

cn3

• Allelic Composition: Erbb2^{tm3(Erbb2)Mul}/Erbb2^tm1Mll; Tg(ACTA1-cre)1Mll/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:82801 )

• when placed on a slippery surface, mutants are unable to position their limbs properly

• mutants exhibit spastic movements

abnormal reflex ( J:82801 )

• abnormal hindlimb extension reflexes

ataxia ( J:82801 )

muscle

abnormal muscle spindle morphology ( J:82801 )

• initial contact between sensory Ia afferent neurons and myotubes occurs but subsequent development of muscle spindles is impaired

absent muscle spindles ( J:82801 )

• absence of muscle spindles

nervous system

abnormal muscle spindle morphology ( J:82801 )

• initial contact between sensory Ia afferent neurons and myotubes occurs but subsequent development of muscle spindles is impaired

absent muscle spindles ( J:82801 )

• absence of muscle spindles

abnormal neuromuscular synapse morphology ( J:82801 )

• synapses at neuromuscular junctions contain reduced numbers of acetylcholine receptors

abnormal CNS synaptic transmission ( J:82801 )

• mutants exhibit reduced synaptic transmission at neuromuscular junctions; mepc amplitudes are reduced by about 15% compared to wild-type