All Phenotypes Dync1h1<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Dync1h1⁺
wild type
MGI:2433052

Summary

10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Dync1h1^Cra1/Dync1h1⁺	C3HeB/FeJ-Dync1h1^Cra1	MGI:3721971
ht2	Dync1h1^Loa/Dync1h1⁺	C3H/HeH-Dync1h1^Loa	MGI:3722061
ht3	Dync1h1^tm1dIcs/Dync1h1⁺	C57BL/6N-Dync1h1^tm1dIcs/Ics	MGI:6408351
ht4	Dync1h1^Swl/Dync1h1⁺	involves: 101/H * C3H/HeH	MGI:3844518
ht5	Dync1h1^tm1.1Sjki/Dync1h1⁺	involves: 129 * 129S1/SvImJ * C57BL/6 * C57BL/6J	MGI:6198577
ht6	Dync1h1^Cra1/Dync1h1⁺	involves: C3HeB/FeJ * C57BL/6	MGI:3722064
ht7	Dync1h1^Loa/Dync1h1⁺	involves: C3H/HeH * C57BL/6	MGI:3722065
ht8	Dync1h1^tm1Ics/Dync1h1⁺	involves: C57BL/6 * C57BL/6N * SJL	MGI:7641516
ht9	Dync1h1^tm1.1Ics/Dync1h1⁺	involves: C57BL/6 * C57BL/6N * SJL	MGI:7641497
cx10	Dync1h1^Cra1/Dync1h1⁺ Tg(SOD1*G93A)1Gur/?	involves: C3HeB/FeJ * C57BL/6 * SJL	MGI:3721969

Allelic Composition	Dync1h1^Cra1/Dync1h1⁺
Genetic Background	C3HeB/FeJ-Dync1h1^Cra1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync1h1^Cra1 mutation (0 available); any Dync1h1 mutation (195 available)

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

nervous system

decreased motor neuron number ( J:83128 )

• alpha motor neurons in the spinal cord anterior horn are decreased in number at 16 and 19 months

motor neuron degeneration ( J:83128 )

behavior/neurological

impaired coordination ( J:83128 , J:107901 )

• latency to fall in a hanging testis reduced at 16 months of age (J:83128)

• mice show a reduced rotarod performance and reached latency to fall after 18 seconds on day 200 (J:107901)

decreased grip strength ( J:83128 )

• hindlimb and forelimb grip strength is reduced and 3 months and worsens at 16 months

muscle

muscle spasm ( J:83128 )

• mice exhibit cramping when hung by their tails in which the whole body would start to tremble, then the forelimbs cramped, the neck stretched, the mouth opened and the tongue stuck out

Allelic Composition	Dync1h1^Loa/Dync1h1⁺
Genetic Background	C3H/HeH-Dync1h1^Loa

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync1h1^Loa mutation (2 available); any Dync1h1 mutation (195 available)

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

nervous system

abnormal motor neuron innervation pattern ( J:83128 )

• at E13.5, nerves extend less far into the limb and exhibit a 30% decrease in branching complexity

decreased motor neuron number ( J:83128 )

• alpha motor neurons in the spinal cord anterior horn are decreased in number at 16 and 19 months

motor neuron degeneration ( J:83128 )

behavior/neurological

impaired coordination ( J:83128 )

• authors state that mice display a similar phenotype as Dync1h1^Cra1 heterozygotes

abnormal grip strength ( J:83128 )

• authors state that mice display a similar phenotype as Dync1h1^Cra1 heterozygotes

muscle

muscle spasm ( J:83128 )

• mice exhibit cramping when hung by their tails in which the whole body would start to tremble, then the forelimbs cramped, the neck stretched, the mouth opened and the tongue stuck out

• Background Sensitivity: cramping is more severe than on a mixed C57BL/6 background

Allelic Composition	Dync1h1^tm1dIcs/Dync1h1⁺
Genetic Background	C57BL/6N-Dync1h1^tm1dIcs/Ics

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync1h1^tm1dIcs mutation (0 available); any Dync1h1 mutation (195 available)

Data Sources

IMPC Data for Dync1h1

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

behavior/neurological

decreased locomotor activity ( J:211773 )

IMPC - ICS

abnormal vocalization ( J:211773 )

IMPC - ICS

homeostasis/metabolism

impaired glucose tolerance ( J:211773 )

IMPC - ICS

Allelic Composition	Dync1h1^Swl/Dync1h1⁺
Genetic Background	involves: 101/H * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync1h1^Swl mutation (3 available); any Dync1h1 mutation (195 available)

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

behavior/neurological

impaired limb coordination ( J:11963 , J:13469 )

• mutants can be unquestionably distinguished from normal siblings at 12 days of age (J:11963)

• when the mouse is lifted the hind limbs flex to the trunk rather than extend as they would for a normal mouse; occasionally the fore limbs will also flex (J:11963)

• during forward motion hind limbs show stiffness on forward motion and move in a wider arc than do hind limbs of normal mice (J:11963)

• hind limbs displace in a rapid vertical direction during locomotion (J:13469)

jerky movement ( J:13469 )

• during locomotion

abnormal resting posture ( J:13469 )

• hind limbs are splayed out when mouse is at rest

• by 6 days of age impaired hind limb coordination is obvious

growth/size/body

abnormal postnatal growth ( J:13469 )

• for several weeks growth rate is reduced compared to that of normal siblings

reproductive system

male infertility ( J:11963 )

• likely due to inability to mate

Allelic Composition	Dync1h1^tm1.1Sjki/Dync1h1⁺
Genetic Background	involves: 129 * 129S1/SvImJ * C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync1h1^tm1.1Sjki mutation (0 available); any Dync1h1 mutation (195 available)

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

behavior/neurological

limb grasping ( J:264493 )

• mice show an increase in atypical tail suspension responses at 9 and 12 months of age, but not at 3 or 6 months, showing clenching of hindlimbs

impaired coordination ( J:264493 )

• in the accelerating rotarod, males exhibit reduced performance at 3, 6, and 9 months of age while females only show reduced performance at 3 months of age

decreased grip strength ( J:264493 )

• males exhibit weakness in limb grip strength, with reduced weakness in hind limbs at an early age and progressive front limb weakness with age at 9 and 12 months of age

• females exhibit subtle defects in grip strength at 6 and 9 months of age, but no defect in front limb grip strength

growth/size/body

increased susceptibility to weight gain ( J:264493 )

• females show a modest weight gain at 3 months that disappears with age

nervous system

abnormal neuromuscular synapse morphology ( J:264493 )

• neuromuscular junctions (NMJ) exhibit a range of defects in size, branches, and complexity

• NMJs of 1 month old mice have fewer branches, longer branches, and a reduction in the surface area to volume ratio of the entire NJM

• morphology of NMJs at 3 months are indistinguishable from wild-type

• a small subset of NMJs at 6 months of age appear less complex

• a large percent of NMJs at 9 months of age show defects, with a decrease in the percentage of NMJs that are innervated

• NMJs at 12 months of age show severe defects, with many having a wider junction diameter with a reduction in the number of branches present and a reduction in the percentage of NMJs that are innervated correctly

muscle

muscle phenotype ( J:264493 )

N	• gastrocnemius muscle shows normal sarcomere organization and sarcomere lengths in males

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease axonal type 2O		DOID:0110175	OMIM:614228	J:264493

Allelic Composition	Dync1h1^Cra1/Dync1h1⁺
Genetic Background	involves: C3HeB/FeJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync1h1^Cra1 mutation (0 available); any Dync1h1 mutation (195 available)

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

muscle

muscle spasm ( J:83128 )

• Background Sensitivity: authors state that the phenotype observed is changed and milder than in Dync1h1^Cra1 homozygotes

Allelic Composition	Dync1h1^Loa/Dync1h1⁺
Genetic Background	involves: C3H/HeH * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync1h1^Loa mutation (2 available); any Dync1h1 mutation (195 available)

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

muscle

muscle spasm ( J:83128 )

• Background Sensitivity: authors state that the phenotype observed is changed and milder than in Dync1h1^Loa homozygotes

Allelic Composition	Dync1h1^tm1Ics/Dync1h1⁺
Genetic Background	involves: C57BL/6 * C57BL/6N * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync1h1^tm1Ics mutation (0 available); any Dync1h1 mutation (195 available)

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

behavior/neurological

behavior/neurological phenotype ( J:334549 )

N	• normal locomotion

embryo

embryo phenotype ( J:334549 )

N	• mice born at normal Mendelian ratios

growth/size/body

growth/size/body region phenotype ( J:334549 )

N	• normal growth and development

mortality/aging

mortality/aging ( J:334549 )

N	• normal survival

nervous system

nervous system phenotype ( J:334549 )

N	• normal brain morphology and development

Allelic Composition	Dync1h1^tm1.1Ics/Dync1h1⁺
Genetic Background	involves: C57BL/6 * C57BL/6N * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync1h1^tm1.1Ics mutation (1 available); any Dync1h1 mutation (195 available)

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

behavior/neurological

tremors ( J:334549 )

• when walking at age P4

abnormal gait ( J:334549 )

• at ages P4 and P24

decreased locomotor activity ( J:334549 )

• at age P24

cellular

abnormal radial glial cell morphology ( J:334549 )

• loss of radial organization in E14.5 embryos

• clustered cells in E14.5 embryos

• fewer radial glial cells in apical VZ and more in basal VZ

abnormal mitosis ( J:334549 )

• fewer cells entering S-phase in cerebral cortex of E14.5 embryos

• fewer mitotic cells in apical and more cells in basal cerebral cortex of E14.5 embryos

• more cells exiting cell cycle in cerebral cortex of E14.5 embryos

increased neuron apoptosis ( J:334549 )

• 7x increase in apoptotic cells in cerebral cortex of E14.5 embryos

abnormal neuronal migration ( J:334549 )

• delayed migration in newborn cerebral cortex, with more cells in deeper layers and fewer in cortical plate

abnormal cell proliferation ( J:334549 )

• fewer proliferating cells in apical and more cells in basal cerebral cortex of E14.5 embryos

growth/size/body

decreased body size ( J:334549 )

• from birth to early death

slow postnatal weight gain ( J:334549 )

• ~50% lower body weight at age P24

mortality/aging

premature death ( J:334549 )

• no survival past 3-4 weeks

nervous system

abnormal radial glial cell morphology ( J:334549 )

• loss of radial organization in E14.5 embryos

• clustered cells in E14.5 embryos

• fewer radial glial cells in apical VZ and more in basal VZ

increased neuron apoptosis ( J:334549 )

• 7x increase in apoptotic cells in cerebral cortex of E14.5 embryos

abnormal neuronal migration ( J:334549 )

• delayed migration in newborn cerebral cortex, with more cells in deeper layers and fewer in cortical plate

abnormal cortical ventricular zone morphology ( J:334549 )

• VZ represents increased proportion of cortical wall thickness in E14.5 embryos

• fewer radial glial cells in apical VZ and more in basal VZ

• impaired VZ basal to apical interkinetic nuclear migration in E14.5 embryos

decreased brain size ( J:334549 )

• at birth

abnormal brain ventricular system morphology ( J:334549 )

• discontinuous ventricular surface in cerebral cortex of E14.5 embryos

thin cerebral cortex ( J:334549 )

• thinner cortical wall in E14.5 embryos

abnormal embryonic/fetal subventricular zone morphology ( J:334549 )

• SVZ represents decreased proportion of cortical wall thickness in somatosensory cortex of E14.5 embryos

• fewer intermediate progenitors (IPs) in somatosensory cortex SVZ of E14.5 embryos

• intermediate progenitors (IPs) distributed more towards apical part of somatosensory cortex SVZ of E14.5 embryos

Allelic Composition	Dync1h1^Cra1/Dync1h1⁺ Tg(SOD1*G93A)1Gur/?
Genetic Background	involves: C3HeB/FeJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dync1h1^Cra1 mutation (0 available); any Dync1h1 mutation (195 available)
Tg(SOD1*G93A)1Gur mutation (4 available)

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

mortality/aging

premature death ( J:107901 )

• mice reach end stage by day 167 +/-2.5 SEM (standard error of measurement)

nervous system

astrocytosis ( J:107901 )

• astrocytosis is evident in the cervical and lumbar spinal cord

abnormal spinal cord morphology ( J:107901 )

• degeneration of the motor neurons in the cervical and lumbar spinal cord at end stage with astrocytosis and vacuolization

decreased motor neuron number ( J:107901 )

• degeneration of the motor neurons in the cervical and lumbar spinal cord is visible at end stage

motor neuron degeneration ( J:107901 )

• degeneration of the motor neurons in the cervical and lumbar spinal cord is visible at end stage

behavior/neurological

decreased locomotor activity ( J:107901 )

• motor activity is less than in Tg(SOD1*G93A)1Gur mice but does not deteriorate as quickly

growth/size/body

decreased body weight ( J:107901 )

• weight reduction was not as severe as in Tg(SOD1*G93A)1Gur mice

cellular

astrocytosis ( J:107901 )

• astrocytosis is evident in the cervical and lumbar spinal cord

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