Phenotypes associated with this allele

• Allele Symbol: Zic1⁺
• Allele Name: wild type
• Allele ID: MGI:2433719
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Zic1^tm1Jaru/Zic1^+	B6.129S4-Zic1^tm1Jaru	MGI:3716303
ht2	Zic1/Zic4^tm1Kjmi/Zic1^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3511193
ht3	Zic1^tm1Jaru/Zic1^+	involves: 129S4/SvJae * C57BL/6J * C3H/HeN	MGI:3511206

Genotype
MGI:3716303

ht1

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

• ♀: 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

Genotype
MGI:3511193

ht2

• Allelic Composition: Zic1/Zic4^tm1Kjmi/Zic1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

mortality/aging

postnatal lethality, incomplete penetrance ( J:93955 )

• severely affected heterozygotes (15% of all heterozygotes) do not survive past weaning

behavior/neurological

impaired righting response ( J:93955 )

• severely affected heterozygotes (15% of all heterozygotes) do not develop a normal righting reflex by P10

ataxia ( J:93955 )

growth/size/body

decreased body weight ( J:93955 )

• average body weight in severely affected heterozygotes (15% of all heterozygotes) is 45% that of wild-type littermates

nervous system

abnormal cerebellar foliation ( J:93955 )

• in 85% of heterozygotes mild defects are seen in the anterior folia

• in 15% of heterozygotes severe foliar defects are seen

abnormal cerebellum vermis morphology ( J:93955 )

• in mildly affected heterozygotes, the vermis is slightly smaller compared to wild-type mice

cerebellum vermis hypoplasia ( J:93955 )

• in severely affected heterozygotes disproportionate vermis hypoplasia is seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Dandy-Walker syndrome		DOID:2785	OMIM:220200	J:93955

Genotype
MGI:3511206

ht3

• 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