Phenotypes associated with this allele

• Allele Symbol: Neb^tm1Slbt
• Allele Name: targeted mutation 1, Siegfried Labeit
• Allele ID: MGI:3703320
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Neb^tm1Slbt/Neb^tm1Slbt	involves: 129P2/OlaHsd	MGI:3706664

Genotype
MGI:3706664

hm1

• Allelic Composition: Neb^tm1Slbt/Neb^tm1Slbt
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

lethality at weaning, complete penetrance ( J:119578 )

• the remaining 10% of animals die during their third week

postnatal lethality, incomplete penetrance ( J:119578 )

• about 90% die within the first 2 weeks after birth

growth/size/body

postnatal growth retardation ( J:119578 )

• already growth-retarded at day 1 after birth and over the full postnatal range that was tested

behavior/neurological

abnormal gait ( J:119578 )

• develop a stiff gait

skeleton

kyphosis ( J:119578 )

vision/eye

blepharoptosis ( J:119578 )

• severe muscle weakness as indicated by ptosis

muscle

abnormal sarcomere morphology ( J:119578 )

• shorter thin filaments

abnormal H zone morphology ( J:119578 )

• absence of H-zones

abnormal muscle contractility ( J:119578 )

• maximal active tension of skinned muscle fibers is significantly reduced

progressive muscle weakness ( J:119578 )

• between day 10 and 20

• indicated by their inability to climb, hold their weight when clinging to a spatula, and inability to keep their eyes open

• able to walk up to week 3

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 2		DOID:0110928	OMIM:256030	J:149329