All Phenotypes Dag1<tm2Kcam> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Dag1^tm2Kcam
targeted mutation 2, Kevin P Campbell
MGI:2387358

Summary

9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Dag1^tm2Kcam/Dag1^tm2Kcam Itgb4^tm1Mfel/Itgb4^tm1Mfel Tg(Mpz-cre)26Mes/0	involves: 129 * C57BL/6 * FVB/N	MGI:3804181
cn2	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Mpz-cre)26Mes/0	involves: 129 * C57BL/6 * FVB/N	MGI:3804182
cn3	Dag1^tm2Kcam/Dag1^tm2Kcam Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:4946226
cn4	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Myh11-cre)5013Gko/0	involves: 129S1/Sv * 129X1/SvJ	MGI:4946227
cn5	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3822745
cn6	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:4440460
cn7	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Ckmm-cre)5Khn/0	involves: 129S1/Sv * 129X1/SvJ * FVB	MGI:2450243
cn8	Dag1^tm1Kcam/Dag1^tm2Kcam Tg(GFAP-cre)25Mes/0	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:2684282
cn9	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(GFAP-cre)25Mes/0	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:2684281

Allelic Composition	Dag1^tm2Kcam/Dag1^tm2Kcam Itgb4^tm1Mfel/Itgb4^tm1Mfel Tg(Mpz-cre)26Mes/0
Genetic Background	involves: 129 * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1^tm2Kcam mutation (2 available); any Dag1 mutation (109 available)
Itgb4^tm1Mfel mutation (0 available); any Itgb4 mutation (107 available)
Tg(Mpz-cre)26Mes mutation (2 available)

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

nervous system

abnormal axon morphology ( J:137852 )

• the inner mesaxon appears disorganized

abnormal myelin sheath morphology ( J:137852 )

• abnormally folded myelin with loops, infolding and outfolding is seen in sciatic nerves

• abnormal folding increases with age

demyelination ( J:137852 )

• hypomyelination of the ventral roots that is more severe than in single conditional null Dag1^tm2Kcam mice

• decrease in myelination becomes evident with age and at 12 months of age includes signs of acute demyelination, myelin degeneration, macrophage infiltration, and remyelination

• macrophages are more numerous in double mutants compared to single conditional null Dag1^tm2Kcam mice

abnormal action potential ( J:137852 )

• slight but non significant reduction compared to single conditional null Dag1^tm2Kcam mice

abnormal nerve conduction ( J:137852 )

• slight but non significant increase compared to single conditional null Dag1^tm2Kcam mice

decreased nerve conduction velocity ( J:137852 )

• slight but non significant reduction compared to single conditional null Dag1^tm2Kcam mice

Allelic Composition	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Mpz-cre)26Mes/0
Genetic Background	involves: 129 * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1^tm2Kcam mutation (2 available); any Dag1 mutation (109 available)
Tg(Mpz-cre)26Mes mutation (2 available)

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

nervous system

abnormal myelin sheath morphology ( J:137852 )

• abnormally folded myelin with loops, infolding and outfolding is seen in sciatic nerves

demyelination ( J:137852 )

• hypomyelination of the ventral roots

• decrease in myelination becomes evident with age and at 12 months of age includes signs of acute demyelination, myelin degeneration, macrophage infiltration, and remyelination

abnormal action potential ( J:137852 )

• reduced motor action potential amplitude

abnormal nerve conduction ( J:137852 )

decreased nerve conduction velocity ( J:137852 )

Allelic Composition	Dag1^tm2Kcam/Dag1^tm2Kcam Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1^tm2Kcam mutation (2 available); any Dag1 mutation (109 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

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

cardiovascular system

myocardial fiber degeneration ( J:169951 )

• myocardial cell degeneration marked by eosinophilic myocytes, infiltration of mononuclear cells and significant focal collagen deposition at 10 months of age

• mutants exhibit focal patches of cardiac myocyte membrane damage due to damage expansion of myocardial damage to neighboring myocytes, compared to controls that only show damage in individual myocytes

abnormal heart left ventricle wall thickness ( J:169951 )

• some hearts exhibit focal thinning of the left ventricular wall

cardiac fibrosis ( J:169951 )

• increase in cardiac fibrosis, with nearly 9% of the myocardium replaced with focal fibrotic tissue at 10 months of age

dilated cardiomyopathy ( J:169951 )

• mutants develop progressive dilated cardiomyopathy

• 65% increase in heart weight/body weight ratios

• ratio of the end diastolic volume to mass is increased, indicating dilation of chambers as opposed to increase in overall heart size

• first signs of cardiomyopathy are seen at 7 months of age, with mutants starting to show small focal areas of fibrosis

abnormal cardiac muscle contractility ( J:169951 )

• reduction in the left ventricular ejection fraction indicating impaired systolic function

muscle

myocardial fiber degeneration ( J:169951 )

• myocardial cell degeneration marked by eosinophilic myocytes, infiltration of mononuclear cells and significant focal collagen deposition at 10 months of age

dilated cardiomyopathy ( J:169951 )

• mutants develop progressive dilated cardiomyopathy

• 65% increase in heart weight/body weight ratios

• ratio of the end diastolic volume to mass is increased, indicating dilation of chambers as opposed to increase in overall heart size

• first signs of cardiomyopathy are seen at 7 months of age, with mutants starting to show small focal areas of fibrosis

abnormal cardiac muscle contractility ( J:169951 )

• reduction in the left ventricular ejection fraction indicating impaired systolic function

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:169951

Allelic Composition	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Myh11-cre)5013Gko/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1^tm2Kcam mutation (2 available); any Dag1 mutation (109 available)
Tg(Myh11-cre)5013Gko mutation (0 available)

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

cardiovascular system

cardiovascular system phenotype ( J:169951 )

N	• mutants do not exhibit alterations in cardiac mass or pathology at 10 months of age

Allelic Composition	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1^tm2Kcam mutation (2 available); any Dag1 mutation (109 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

nervous system

abnormal neuromuscular synapse morphology ( J:142595 )

• in the tibialis muscle, acetylcholine receptors cluster are only found in 3% of neuromuscular junctions (NMJs) unlike in wild-type mice that exhibit clusters in 97% of NMJs

• postsynaptic NMJ maturation is impaired in 97% of muscle fibers compared to in wild-type mice

• however, nerve terminals fully cover postsynaptic sites as in wild-type mice

Allelic Composition	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1^tm2Kcam mutation (2 available); any Dag1 mutation (109 available)
Tg(Nes-cre)1Kln mutation (4 available)

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

vision/eye

mydriasis ( J:158199 )

• pupils are dilated but responsive to light

anterior iris synechia ( J:158199 )

• synechia of the iris and cornea

cornea opacity ( J:158199 )

• corneal opacities

buphthalmos ( J:158199 )

microphthalmia ( J:158199 )

abnormal rod electrophysiology ( J:158199 )

• the positive scotopic threshold response is significantly reduced

• the b-wave responses are severely attenuated

blindness ( J:158199 )

• in the Morris water maze and visual cliff test

Allelic Composition	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Ckmm-cre)5Khn/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1^tm2Kcam mutation (2 available); any Dag1 mutation (109 available)
Tg(Ckmm-cre)5Khn mutation (4 available)

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

muscle

abnormal skeletal muscle morphology ( J:78838 )

• at ~6 weeks, mutant skeletal muscles show loss of dystrophin, dystrobrevin, and the sarcoglycan-sarcospan complex

• during cycles of degeneration, satellite cells are repetitively activated leading to expression of dystroglycan and other components of the DGC in muscle fibers undergoing regeneration

increased skeletal muscle fiber size ( J:78838 )

• surprisingly, aging mutants develop marked hypertrophy of skeletal muscle fibers

increased skeletal muscle fiber diameter ( J:78838 )

• a >2-fold increase in fiber diameter of the quadriceps and soleus muscle noted at 18 months

increased variability of skeletal muscle fiber size ( J:78838 )

• at ~6 weeks, mutant mice show variation of skeletal muscle fiber size

centrally nucleated skeletal muscle fibers ( J:78838 )

• up to 95% of skeletal muscle fibers exhibit centrally located nuclei

increased skeletal muscle weight ( J:78838 )

• at 15 months, mutants show a widespread increase in wet muscle weight, esp. in the quadriceps and gastrocnemius muscles, where the weight is doubled

skeletal muscle necrosis ( J:78838 )

• at ~6 weeks, mutant skeletal muscles, including quadriceps, gastrocnemius, tibialis anterior, biceps, gluteus maximus, and diaphragm, display myonecrosis

dystrophic muscle ( J:78838 )

• at ~6 weeks, mutants exhibit hallmarks of muscular dystrophy, such as myonecrosis, central nucleation, and variation of fiber size

• however, despite ongoing cycles of muscle degeneration, aging mutants exhibit only a mild dystrophy with signs of efficient muscle regeneration and marked skeletal muscle hypertrophy but no signs of fibrosis or fat replacement

homeostasis/metabolism

increased circulating creatine kinase level ( J:78838 )

• mutant mice exhibit significant elevation of serum creatine kinase levels

growth/size/body

increased body size ( J:78838 )

• at 15 months, mutant mice are significantly larger than control littermates

Allelic Composition	Dag1^tm1Kcam/Dag1^tm2Kcam Tg(GFAP-cre)25Mes/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1^tm1Kcam mutation (1 available); any Dag1 mutation (109 available)
Dag1^tm2Kcam mutation (2 available); any Dag1 mutation (109 available)
Tg(GFAP-cre)25Mes mutation (2 available)

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

nervous system

abnormal neuronal migration ( J:86901 )

• cerebral, cerebellar and brain stem neuronal migration abnormalities

increased brain size ( J:86901 )

cellular

abnormal neuronal migration ( J:86901 )

• cerebral, cerebellar and brain stem neuronal migration abnormalities

growth/size/body

megacephaly ( J:86901 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lissencephaly		DOID:0050453	OMIM:PS607432	J:86901

Allelic Composition	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(GFAP-cre)25Mes/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1^tm2Kcam mutation (2 available); any Dag1 mutation (109 available)
Tg(GFAP-cre)25Mes mutation (2 available)

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

nervous system

abnormal neuronal migration ( J:86901 )

• cerebral, cerebellar and brain stem neuronal migration abnormalities

abnormal brain morphology ( J:86901 )

• fusion of the cerebral interhemispheric fissure and adjacent cerebellar folia

• malformations resembling polymicrogyria

abnormal cerebellum development ( J:86901 )

• granule cells are observed in the subrarachnoid space during postnatal cerebellar development indicating aberrant migration of granule cells

increased brain size ( J:86901 )

• about 20% increase in brain size

abnormal hippocampus CA1 region morphology ( J:86901 )

• some mutants show minor dispersion of neuronal cell bodies in the CA1 region

abnormal hippocampus granule cell layer ( J:86901 )

• some mutants show focal irregularities of the dentate granule cell layer in the hippocampus

abnormal cerebral cortex morphology ( J:86901 )

• cerebral cortical surfaces show widespread discontinuities of the glia limitans (pial surface basal lamina) accompanied by glial neuronal heterotopia within the leptomeninges

abnormal stratification in cerebral cortex ( J:86901 )

• multifocal disarray of neuronal layering in the cerebral cortex

abnormal cerebellar cortex morphology ( J:86901 )

• cerebellar cortical surfaces show widespread discontinuities of the glia limitans (pial surface basal lamina) accompanied by glial neuronal heterotopia within the leptomeninges

astrocytosis ( J:86901 )

• GFAP-immunoreactive astrocytes are prominent in the cerebral cortex, indicating gliosis

abnormal subarachnoid space morphology ( J:86901 )

• the normally open subarachnoid space is filled with heterotopic astrocytic and neuronal processes

reduced long-term potentiation ( J:86901 )

• induction of long-term potentiation (LTP) by high-frequency stimulation is blunted in hippocampal slices, however baseline neurotransmission is unaffected and presynaptic neurotransmitter release is not affected

vision/eye

abnormal rod electrophysiology ( J:158199 )

• significantly reduced positive scotopic threshold response

• significantly increased negative scotopic threshold response

• the b-wave responses are severely attenuated

cellular

abnormal neuronal migration ( J:86901 )

• cerebral, cerebellar and brain stem neuronal migration abnormalities

growth/size/body

megacephaly ( J:86901 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lissencephaly		DOID:0050453	OMIM:PS607432	J:86901

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