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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Smad5+
wild type
MGI:2182817
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Smad5tm1Zuk/Smad5+ involves: 129S7/SvEvBrd * C57BL/6 MGI:2664827
cx2
Smad5tm1Zuk/Smad5+
Smad9tm2.1Rob/Smad9tm2.1Rob
involves: 129S/SvEv * 129S7/SvEvBrd MGI:3702564
cx3
Smad1tm1Rob/Smad1+
Smad5tm1Zuk/Smad5+
Smad9tm2.1Rob/Smad9tm2.1Rob
involves: 129S/SvEv * 129S7/SvEvBrd MGI:3702566
cx4
Smad1tm1Rob/Smad1+
Smad5tm1Zuk/Smad5+
involves: 129S/SvEv * 129S7/SvEvBrd MGI:3702568


Genotype
MGI:2664827
ht1
Allelic
Composition
Smad5tm1Zuk/Smad5+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad5tm1Zuk mutation (1 available); any Smad5 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• on average, 45 PGCs were detected in embyros with 0 to 5 somites (age matched wild-type mice had 65 PGCs)

cellular
• on average, 45 PGCs were detected in embyros with 0 to 5 somites (age matched wild-type mice had 65 PGCs)




Genotype
MGI:3702564
cx2
Allelic
Composition
Smad5tm1Zuk/Smad5+
Smad9tm2.1Rob/Smad9tm2.1Rob
Genetic
Background
involves: 129S/SvEv * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad5tm1Zuk mutation (1 available); any Smad5 mutation (23 available)
Smad9tm2.1Rob mutation (0 available); any Smad9 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• authors state phenotype is same as previously described for Smad5 null embryos; Smad9 deficiency does not exacerbate the Smad5 phenotype

embryo

growth/size/body

cardiovascular system

nervous system

craniofacial

reproductive system

cellular




Genotype
MGI:3702566
cx3
Allelic
Composition
Smad1tm1Rob/Smad1+
Smad5tm1Zuk/Smad5+
Smad9tm2.1Rob/Smad9tm2.1Rob
Genetic
Background
involves: 129S/SvEv * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad1tm1Rob mutation (0 available); any Smad1 mutation (32 available)
Smad5tm1Zuk mutation (1 available); any Smad5 mutation (23 available)
Smad9tm2.1Rob mutation (0 available); any Smad9 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no live born mice are obtained




Genotype
MGI:3702568
cx4
Allelic
Composition
Smad1tm1Rob/Smad1+
Smad5tm1Zuk/Smad5+
Genetic
Background
involves: 129S/SvEv * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad1tm1Rob mutation (0 available); any Smad1 mutation (32 available)
Smad5tm1Zuk mutation (1 available); any Smad5 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no viable embryos are recovered at E13.5

embryo
• second branchial arches are absent or severely compromised in their development
• third branchial arches are absent or severely compromised in their development
• in the most severely affected mutants, mesoderm is underrepresented
• expression of Nodal in embryos is disturbed in lateral plate mesoderm (LPM), showing compromised ability to activate left/right pathway in LPM
• at E10.5 and 11.5, the most severely affected embryos (~33%) are poorly patterned along the anterior-posterior axis
• in some embryos, rostral regions of CNS tissue are correctly specified, but cranial folds fail to fuse
• somites are misaligned and fragmented in a high proportion of embryos
• in many embryos, morphology is overtly normal except that allantois remains as a dense mass of tissue
• in some embryos the allantois is fused across the amnion
• some embryos at E7.5 display ruffling of the visceral yolk sac

cardiovascular system
• heart chamber patterning and specification is severely disturbed
• pronounced heart looping defects are observed in a high proportion of embryos
• in some embryos, there is inversion of looping direction
• in some embryos, looping is stalled, with heart tube remaining linear along ventral midline
• anterior-posterior patterning of heart tube is abnormal

nervous system
• in the most severely affected embryos, there is a spectrum of anterior defects; embryos show absence of anterior-most neural tissue by Fgf8 expression, whereas midbrain-hindbrain isthmus is specified
• most rostral regions of CNS are absent
• in some embryos, rostral regions of CNS tissue are correctly specified, but cranial folds fail to fuse

reproductive system
• at the 10-15 somite stage, mutants show greatly reduced numbers of primordial germ cells (PGCs) compared to wild-type (wild-type 80-100 cells)
• at 20-25 somite stage, there are 200-300 germ cells in hindgut in wild-type, most mutants lack germ cells and remainder (~40%) show 10-fold fewer cells
• in majority of embryos at the 20-25 somite stage, germ cells are absent

craniofacial
• second branchial arches are absent or severely compromised in their development
• third branchial arches are absent or severely compromised in their development

cellular
• at the 10-15 somite stage, mutants show greatly reduced numbers of primordial germ cells (PGCs) compared to wild-type (wild-type 80-100 cells)
• at 20-25 somite stage, there are 200-300 germ cells in hindgut in wild-type, most mutants lack germ cells and remainder (~40%) show 10-fold fewer cells
• in majority of embryos at the 20-25 somite stage, germ cells are absent





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last database update
05/21/2024
MGI 6.23
The Jackson Laboratory