All Phenotypes Zic1<tm1Jaru> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Zic1^tm1Jaru
targeted mutation 1, Jun Aruga
MGI:2156822

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zic1^tm1Jaru/Zic1^tm1Jaru	involves: 129S4/SvJae * C57BL/6J	MGI:2653198
hm2	Zic1^tm1Jaru/Zic1^tm1Jaru	involves: 129S4/SvJae * C57BL/6J * C3H/HeN	MGI:2653197
ht3	Zic1^tm1Jaru/Zic1⁺	B6.129S4-Zic1^tm1Jaru	MGI:3716303
ht4	Zic1^tm1Jaru/Zic1⁺	involves: 129S4/SvJae * C57BL/6J * C3H/HeN	MGI:3511206

Allelic Composition	Zic1^tm1Jaru/Zic1^tm1Jaru
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zic1^tm1Jaru mutation (2 available); any Zic1 mutation (31 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:73794 )

• 50% of mice died within 1 day of birth

postnatal lethality, complete penetrance ( J:73794 )

• remaining 50% of mice died within 3 weeks of birth

behavior/neurological

abnormal suckling behavior ( J:73794 )

• less milk in stomach than littermate controls, authors suggest as a result of poor suckling

• authors attribute growth retardation to less milk ingestion

impaired righting response ( J:73794 )

• extended period of time required to right self; sometimes completely unable to do so

ataxia ( J:73794 )

• often lied on backs, forelimbs extended anteriorly and making irregular motions

impaired limb coordination ( J:73794 )

• loss of coordinated movement of all 4 limbs

abnormal gait ( J:73794 )

• dragged hindlimbs

• unable to walk a straight line

• most fell to one side

growth/size/body

postnatal growth retardation ( J:73794 )

• significantly smaller than littermate controls at P2, authors suggest due to poor suckling which resulted in decreased amounts of milk in stomach

skeleton

kyphosis ( J:73794 )

• in thoracic region

nervous system

abnormal cerebellum development ( J:73794 )

• evident at E17.5

abnormal cerebellar foliation ( J:73794 )

• folia in anterior lobe completely missing in almost all cases

• not restricted to anterior lobe, however, as all fissures appeared shallow

cerebellum hypoplasia ( J:73794 )

• layer organization normal, however

• differentiation and neural circuit formation fundamentally normal

Allelic Composition	Zic1^tm1Jaru/Zic1^tm1Jaru
Genetic Background	involves: 129S4/SvJae * C57BL/6J * C3H/HeN

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zic1^tm1Jaru mutation (2 available); any Zic1 mutation (31 available)

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

mortality/aging

premature death ( J:73794 )

• death by 8 weeks of age

behavior/neurological

abnormal suckling behavior ( J:73794 )

• less milk in stomach than littermate controls, authors suggest as a result of poor suckling

• authors attribute growth retardation to less milk ingestion

impaired righting response ( J:73794 )

• extended period of time required to right self; sometimes completely unable to do so

ataxia ( J:73794 )

• often lied on backs, forelimbs extended anteriorly and making irregular motions

impaired limb coordination ( J:73794 )

• loss of coordinated movement of all 4 limbs

abnormal gait ( J:73794 )

• dragged hindlimbs

• unable to walk a straight line

• most fell to one side

growth/size/body

postnatal growth retardation ( J:73794 )

• significantly smaller than littermate controls at P2, authors suggest due to poor suckling which resulted in decreased amounts of milk in stomach

skeleton

kyphosis ( J:73794 )

• in thoracic region

nervous system

abnormal cerebellum development ( J:73794 )

• evident at E17.5

reduced cerebellar foliation ( J:73794 )

• folia in anterior lobe completely missing in almost all cases

• not restricted to anterior lobe, however, as all fissures appeared shallow

cerebellum hypoplasia ( J:73794 )

• layer organization normal, however

• differentiation and neural circuit formation fundamentally normal

Allelic Composition	Zic1^tm1Jaru/Zic1⁺
Genetic Background	B6.129S4-Zic1^tm1Jaru

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zic1^tm1Jaru mutation (2 available); any Zic1 mutation (31 available)

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

behavior/neurological

decreased locomotor activity ( J:72342 )

• mutants exhibit reduced horizontal motor activity

muscle

hypotonia ( J:72342 )

• mutants perform worse in a wire-hanging test than wild-type, however maximal grip strength is normal, indicating that muscle tone, but not maximal muscle strength, is reduced

• mutants show a slight, but significant reduction in ability to remain on a stationary rod, however show no difference in the retention time on a rotating rod

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Joubert syndrome		DOID:0050777	OMIM:PS213300	J:72342

Allelic Composition	Zic1^tm1Jaru/Zic1⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6J * C3H/HeN

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zic1^tm1Jaru mutation (2 available); any Zic1 mutation (31 available)

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

nervous system

abnormal cerebellar foliation ( J:93955 )

• the anterior folia are disrupted in the vermis

abnormal cerebellum vermis morphology ( J:93955 )

• the vermis is slightly smaller compared to wild-type mice

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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