Mouse Genome Informatics
hm1
    Wnt5atm1Amc/Wnt5atm1Amc
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Primordial germ cell depletion in Ror2Y324C/Ror2Y324C and Wnt5atm1Amc/Wnt5atm1Amc mice

digestive/alimentary system
• at E18.5, all mice exhibit anorectal malformations and fail to show continuity of the rectum and anal epithelium unlike in wild-type mice
• at E18.5
• at E15.5, mice exhibit a fistula between the bladder and the colon unlike wild-type mice
• at E18.5, only 25% of mice display a fistula between the bladder and colon unlike in wild-type mice
• most mice exhibit a blind-ending pouch without a fistula unlike in wild-type mice
• mice exhibit a shortening of the colon
• at E18.5, all mice exhibit anorectal malformations and fail to show continuity of the rectum and anal epithelium unlike in wild-type mice
• mice lack rectal tissues

renal/urinary system
• at E15.5, mice exhibit a fistula between the bladder and the colon unlike wild-type mice
• at E18.5, only 25% of mice display a fistula between the bladder and colon unlike in wild-type mice
• most mice exhibit a blind-ending pouch without a fistula unlike in wild-type mice

liver/biliary system
• the liver is displaced caudally

limbs/digits/tail

reproductive system
• increase in apoptosis of extragonadal primordial germ cells at E10.5 and E11.5
• fail to migrate rostrally at E10.5, remaining caudally distributed
• ectopic PGCs make up over 70% of the total PGCs at E11.5 compared to less than 5% in wild-type controls
• at E10.5, E11.5 and E12.5
• at E18.5, the genital tubercle is hypoplastic compared to in wild-type mice

growth/size

nervous system
N
• mice exhibit normal numbers of thoracic motor neurons and proportions of motor columnar subtypes (J:155074)

cellular
• increase in apoptosis of extragonadal primordial germ cells at E10.5 and E11.5
• fail to migrate rostrally at E10.5, remaining caudally distributed
• ectopic PGCs make up over 70% of the total PGCs at E11.5 compared to less than 5% in wild-type controls

Mouse Models of Human Disease
OMIM IDRef(s)
Anorectal Anomalies 107100 J:153152


Mouse Genome Informatics
hm2
    Wnt5atm1Amc/Wnt5atm1Amc
involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• live at birth but dead shortly thereafter (J:52600)

craniofacial
• tongue truncated
• reduced outgrowth of external ears

embryogenesis
• shortened, evident at E8.5
• embryos examined at E17.5 to E18.5 showed gross morphological defects of outgrowing tissues
• reduction in presomitic mesoderm, evident at E9.5
• ventral outgrowth of the dorsal mesenchyme is arrested unlike in wild-type mice
• however, the dorsal mesenchyme does form
• at E9.5, evident that caudal somites were smaller than controls
• same number of somites existed, however

growth/size
• tongue truncated
• reduced outgrowth of external ears
• embryos examined at E17.5 to E18.5 were truncated caudally
• significant shortening of embryonic anterior-posterior axis

hearing/vestibular/ear
• reduced outgrowth of external ears

limbs/digits/tail
• of both fore- and hindlimbs
• 59% the length of littermate controls
• 30 to 40% the length of littermate controls
• 30 to 40% the length of littermate controls

reproductive system

respiratory system
• hypercellular with thickened interstitium, evident at E18
• increased numbers of terminal airways, evident at E16
• overexpanded distal airways
• failed coupling of airways to lung capillaries
• differentiation of specialized lung epithelial cells was normal, however
• thickened, evident at E18
• fewer cartilage rings than in littermate controls
• short, with fewer cartilage rings than littermate controls
• no evidence of tracheoesophogeal fusion or of abnormal cellular differentation
• neonatal death apparently due to respiratory failure

skeleton
• 59% the length of littermate controls
• 30 to 40% the length of littermate controls
• 30 to 40% the length of littermate controls
• fewer cartilage rings than in littermate controls
• abnormalities increased in severity caudally
• length of vertebral column was 1/2 that of littermate controls
• in proximal limb elements
• absent in radius and metacarpals

digestive/alimentary system
• tongue truncated
• ventral outgrowth of the dorsal mesenchyme is arrested unlike in wild-type mice
• however, the dorsal mesenchyme does form
• mice fail to initiate the leftward tilt of the midgut unlike wild-type mice


Mouse Genome Informatics
cx3
    Fzd7tm1.1Nat/Fzd7tm1.1Nat
Wnt5atm1Amc/Wnt5a+

involves: 129 * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
limbs/digits/tail
• truncation is more severe than in mice homozygous for Fzd7tm1.1Nat alone


Mouse Genome Informatics
cx4
    Fzd2tm1.1Nat/Fzd2+
Fzd7tm1.1Nat/Fzd7tm1.1Nat
Wnt5atm1Amc/Wnt5a+

involves: 129 * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

growth/size
• starting at E9.5

embryogenesis
• starting at E9.5


Mouse Genome Informatics
cx5
    Wnt4tm1Amc/Wnt4tm1Amc
Wnt5atm1Amc/Wnt5atm1Amc
Wnt5btm1Tmj/Wnt5btm1Tmj

involves: 129S1/Sv * 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• embryos die before the onset of motor neuron differentiation


Mouse Genome Informatics
cx6
    Wnt4tm1Amc/Wnt4tm1Amc
Wnt5atm1Amc/Wnt5a+

involves: 129S1/Sv * 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• at E13.5, median motor column motor neurons at the thoracic level are decreased 46% compared to in wild-type mice
• the ratio of median motor column motor neurons at the hind limb level is decreased compared to in wild-type mice
• at E13.5, hypaxial motor column motor neurons at the thoracic level are increased compared to in wild-type mice


Mouse Genome Informatics
cx7
    Wnt4tm1Amc/Wnt4+
Wnt5atm1Amc/Wnt5atm1Amc

involves: 129S1/Sv * 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• at E13.5, median motor column motor neurons at the thoracic level are decreased 22% compared to in wild-type mice

limbs/digits/tail


Mouse Genome Informatics
cx8
    Wnt4tm1Amc/Wnt4tm1Amc
Wnt5atm1Amc/Wnt5atm1Amc

involves: 129S1/Sv * 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• at E13.5, median motor column motor neurons at the thoracic level are decreased 58% compared to in wild-type mice
• at E13.5, hypaxial motor column motor neurons at the thoracic level are increased compared to in wild-type mice

limbs/digits/tail


Mouse Genome Informatics
cx9
    Wnt4tm1Amc/Wnt4+
Wnt5atm1Amc/Wnt5atm1Amc
Wnt5btm1Tmj/Wnt5btm1Tmj

involves: 129S1/Sv * 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• at E13.5, median motor column motor neurons at the thoracic level are decreased 59% compared to in wild-type mice
• at E13.5, hypaxial motor column motor neurons at the thoracic level are increased 62% compared to in wild-type mice

limbs/digits/tail


Mouse Genome Informatics
cx10
    Wnt4tm1Amc/Wnt4tm1Amc
Wnt5atm1Amc/Wnt5a+
Wnt5btm1Tmj/Wnt5btm1Tmj

involves: 129S1/Sv * 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• at E13.5, median motor column motor neurons at the thoracic level are decreased 63% compared to in wild-type mice
• mice exhibit a 50% reduction in median motor column motor neurons at the lumbar level compared with wild-type mice
• at the hind limb level, the total number of motor neurons is decreased 20% while the ratio of median motor column motor neurons is decreased 50% compared to in wild-type mice
• at E13.5, hypaxial motor column motor neurons at the thoracic level are increased 50% compared to in wild-type mice
• at the hind limb level, the total number of motor neurons is decreased 20% compared to in wild-type mice

limbs/digits/tail


Mouse Genome Informatics
cx11
    Wnt4tm1Amc/Wnt4tm1Amc
Wnt5atm1Amc/Wnt5atm1Amc
Wnt5btm1Tmj/Wnt5b+

involves: 129S1/Sv * 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• at E13.5, median motor column motor neurons at the thoracic level are decreased 67% compared to in wild-type mice
• at E13.5, hypaxial motor column motor neurons at the thoracic level are increased 39% compared to in wild-type mice

limbs/digits/tail


Mouse Genome Informatics
cx12
    Wnt5atm1Amc/Wnt5atm1Amc
Wnt5btm1Tmj/Wnt5btm1Tmj

involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• at E13.5, median motor column motor neurons at the thoracic level are decreased 50% compared to in wild-type mice
• at E13.5, hypaxial motor column motor neurons at the thoracic level are increased compared to in wild-type mice

limbs/digits/tail