All Phenotypes Ttn<tm1Her> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Ttn^tm1Her
targeted mutation 1, Joachim Herz
MGI:2651645

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttn^tm1Her/Ttn^tm1Her	Not Specified	MGI:2651652
ht2	Ttn^tm1Her/Ttn⁺	Not Specified	MGI:2651651
cn3	Ttn^tm1Her/Ttn^tm1Her Tg(Myh6-cre)2182Mds/0	Not Specified	MGI:2651646
cn4	Ttn^tm1Her/Ttn^tm1Her Tg(Ckmm-cre)5Khn/0	Not Specified	MGI:2651647

Allelic Composition	Ttn^tm1Her/Ttn^tm1Her
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttn^tm1Her mutation (0 available); any Ttn mutation (1455 available)

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

normal phenotype

no abnormal phenotype detected ( J:81993 )

Allelic Composition	Ttn^tm1Her/Ttn⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttn^tm1Her mutation (0 available); any Ttn mutation (1455 available)

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

normal phenotype

no abnormal phenotype detected ( J:81993 )

Allelic Composition	Ttn^tm1Her/Ttn^tm1Her Tg(Myh6-cre)2182Mds/0
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Myh6-cre)2182Mds mutation (3 available)
Ttn^tm1Her mutation (0 available); any Ttn mutation (1455 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:81993 )

• resorbed embryos were observed at E15; none are found at birth

Allelic Composition	Ttn^tm1Her/Ttn^tm1Her Tg(Ckmm-cre)5Khn/0
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Ckmm-cre)5Khn mutation (4 available)
Ttn^tm1Her mutation (0 available); any Ttn mutation (1455 available)

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

mortality/aging

premature death ( J:81993 )

• death at about 5 wks of age

behavior/neurological

abnormal posture ( J:81993 )

abnormal gait ( J:81993 )

cardiovascular system

cardiovascular system phenotype ( J:81993 )

N	• the heart was reduced in size, but in proportion to reduced overall body size • no pathology of the heart was reported

growth/size/body

decreased body size ( J:81993 )

postnatal growth retardation ( J:81993 )

• apparent at 3 wks of age

muscle

abnormal sarcomere morphology ( J:81993 )

• disarrayed sarcomeres, observed in less than 50% of the area of the myocytes

abnormal M line morphology ( J:81993 )

• pale, widened M-lines, devoid of M-line bridges

progressive muscle weakness ( J:81993 )

• resulting in abnormal posture, gait, and blepharoptosis

vision/eye

blepharoptosis ( J:81993 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2J		DOID:0110283	OMIM:608807	J:81993

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