Phenotypes associated with this allele

• Allele Symbol: Zic1^tm1Jaru
• Allele Name: targeted mutation 1, Jun Aruga
• Allele ID: 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

Genotype
MGI:2653198

hm1

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

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

mortality/aging

postnatal lethality, complete penetrance ( J:73794 )

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

neonatal lethality, incomplete penetrance ( J:73794 )

• 50% of mice died within 1 day 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

Genotype
MGI:2653197

hm2

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

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

Genotype
MGI:3716303

ht3

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

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

Genotype
MGI:3511206

ht4

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

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