Phenotypes associated with this allele

• Allele Symbol: Tfrc^tm3.1Nca
• Allele Name: targeted mutation 3.1, Nancy C Andrews
• Allele ID: MGI:5689121
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tfrc^tm3.1Nca/Tfrc^tm3.1Nca	involves: 129S4/SvJae * CD-1	MGI:5689325
cn2	Gt(ROSA)26Sor^tm1(Tfrc*)Nca/Gt(ROSA)26Sor^+ Tfrc^tm3.1Nca/Tfrc^tm3.1Nca Tg(Vil1-cre)20Syr/0	involves: 129S4/SvJae * C57BL/6 * CD-1 * DBA/2	MGI:5689324
cn3	Tfrc^tm3.1Nca/Tfrc^tm3.1Nca Tg(Vil1-cre/ERT2)23Syr/0	involves: 129S4/SvJae * C57BL/6 * CD-1 * DBA/2	MGI:5689323
cn4	Tfrc^tm3.1Nca/Tfrc^tm3.1Nca Tg(Vil1-cre)20Syr/0	involves: 129S4/SvJae * C57BL/6 * CD-1 * DBA/2	MGI:5689322
cn5	Tfrc^tm3.1Nca/Tfrc^tm3.1Nca H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJae * C57BL/6J * CBA/J	MGI:7339041

Genotype
MGI:5689325

hm1

• Allelic Composition: Tfrc^tm3.1Nca/Tfrc^tm3.1Nca
• Genetic Background: involves: 129S4/SvJae * CD-1

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

normal phenotype

no abnormal phenotype detected ( J:224823 )

• mice are indistinguishable from wild-type mice

Genotype
MGI:5689324

cn2

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Tfrc*)Nca}/Gt(ROSA)26Sor⁺; Tfrc^tm3.1Nca/Tfrc^tm3.1Nca; Tg(Vil1-cre)20Syr/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1 * DBA/2

mortality/aging

postnatal lethality, incomplete penetrance ( J:224823 )

• some mice die postnatally

• however, most mice are alive at 2 months

digestive/alimentary system

abnormal digestive system morphology ( J:224823 )

• mice that die exhibit the same phenotype as Tfrc^tm3.1Nca/Tfrc^tm3.1Nca Tg(Vil-cre)20Syr mice

• however, mice that survive at 2 months exhibit normal architecture and proliferation of crypt intestinal epithelial cells

Genotype
MGI:5689323

cn3

• Allelic Composition: Tfrc^tm3.1Nca/Tfrc^tm3.1Nca; Tg(Vil1-cre/ERT2)23Syr/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1 * DBA/2

mortality/aging

premature death ( J:224823 )

• mice are killed 1-3 days after the last tamoxifen dose due to poor health

• treatment with iron dextran does not extend lifespan in tamoxifen-treated mice

digestive/alimentary system

abnormal enterocyte proliferation ( J:224823 )

• reduced proliferation in tamoxifen-treated mice

diarrhea ( J:224823 )

• on the fourth day of tamoxifen treatment

blunted small intestinal villi ( J:224823 )

• blunted villi in tamoxifen-treated mice

distended stomach ( J:224823 )

• in tamoxifen-treated mice

growth/size/body

weight loss ( J:224823 )

• on the fourth day of tamoxifen treatment

cellular

abnormal enterocyte proliferation ( J:224823 )

• reduced proliferation in tamoxifen-treated mice

Genotype
MGI:5689322

cn4

• Allelic Composition: Tfrc^tm3.1Nca/Tfrc^tm3.1Nca; Tg(Vil1-cre)20Syr/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1 * DBA/2

mortality/aging

postnatal lethality, complete penetrance ( J:224823 )

• mice die before P3 with variable timing

• treatment with iron dextran does not extend lifespan

digestive/alimentary system

abnormal enterocyte proliferation ( J:224823 )

• reduced proliferation in intervillous regions

melena ( J:224823 )

abnormal intestine morphology ( J:224823 )

• mice exhibit milk in intestinal lumen, shorter intestines with apparent melena compared with wild-type mice

abnormal enterocyte morphology ( J:224823 )

• larger intestinal epithelial cells contain vacuole-like lipid accumulation than in wild-type cells

abnormal colon morphology ( J:224823 )

• severe disruption of epithelial integrity with blunted villi, smaller intervillous regions, edema in the lamina propria and enlarged vacuole-like structures in the intestinal epithelial cells at P2

decreased colon length ( J:224823 )

• reduced length with apparent melena

abnormal small intestine morphology ( J:224823 )

• severe disruption of epithelial integrity with blunted villi, smaller intervillous regions, edema in the lamina propria and enlarged vacuole-like structures in the intestinal epithelial cells at E18.5 and P2

abnormal duodenum morphology ( J:224823 )

• severe disruption of epithelial integrity with blunted villi, smaller intervillous regions, edema in the lamina propria and enlarged vacuole-like structures in the intestinal epithelial cells at P2

blunted small intestinal villi ( J:224823 )

• blunted villi

distended stomach ( J:224823 )

• with milk

growth/size/body

decreased body size ( J:224823 )

• mice fail to thrice and are runted by P1

cellular

abnormal enterocyte proliferation ( J:224823 )

• reduced proliferation in intervillous regions

Genotype
MGI:7339041

cn5

• Allelic Composition: Tfrc^tm3.1Nca/Tfrc^tm3.1Nca; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:316198 )

• all die within 24 hrs of birth

respiratory system

respiratory distress ( J:316198 )

• severe

behavior/neurological

abnormal suckling behavior ( J:316198 )

• unable to suckle

craniofacial

abnormal Meckel's cartilage morphology ( J:316198 )

• at P0 no mature Meckel's cartilages are seen at the proximal end junction to the malleus

small Meckel's cartilage ( J:316198 )

• at E14.5 Meckel's cartilages are smaller and he proximal arms are not articulated with the middle ear capsule and the distal tips are not fused

abnormal hyoid bone morphology ( J:316198 )

• deformed

abnormal mandible morphology ( J:316198 )

• excessively curved which widens the distance between bilateral mandibular bones

abnormal mandibular angle morphology ( J:316198 )

• secondary cartilage is nearly missing

small mandibular condyloid process ( J:316198 )

• severely blocked or delayed

small mandibular coronoid process ( J:316198 )

• severely blocked or delayed

short mandible ( J:316198 )

micrognathia ( J:316198 )

abnormal gonial bone morphology ( J:316198 )

• deformed

abnormal secondary palate development ( J:316198 )

• expression analysis indicates abnormal osteochondrogenic differentiation

abnormal tongue morphology ( J:316198 )

• arched tongue

oral cleft ( J:316198 )

• incomplete oral closure

failure of palatal shelf elevation ( J:316198 )

• fail to elevate above the tongue

• both the palatal process of palatine and palatal process of maxilla fail to elevate and fuse

complete cleft palate ( J:316198 )

• complete cleft palate

hearing/vestibular/ear

abnormal gonial bone morphology ( J:316198 )

• deformed

abnormal tympanic ring morphology ( J:316198 )

• deformed

digestive/alimentary system

abnormal secondary palate development ( J:316198 )

• expression analysis indicates abnormal osteochondrogenic differentiation

failure of palatal shelf elevation ( J:316198 )

• fail to elevate above the tongue

• both the palatal process of palatine and palatal process of maxilla fail to elevate and fuse

complete cleft palate ( J:316198 )

• complete cleft palate

abnormal tongue morphology ( J:316198 )

• arched tongue

growth/size/body

abnormal secondary palate development ( J:316198 )

• expression analysis indicates abnormal osteochondrogenic differentiation

abnormal tongue morphology ( J:316198 )

• arched tongue

oral cleft ( J:316198 )

• incomplete oral closure

failure of palatal shelf elevation ( J:316198 )

• fail to elevate above the tongue

• both the palatal process of palatine and palatal process of maxilla fail to elevate and fuse

complete cleft palate ( J:316198 )

• complete cleft palate

skeleton

abnormal Meckel's cartilage morphology ( J:316198 )

• at P0 no mature Meckel's cartilages are seen at the proximal end junction to the malleus

small Meckel's cartilage ( J:316198 )

• at E14.5 Meckel's cartilages are smaller and he proximal arms are not articulated with the middle ear capsule and the distal tips are not fused

abnormal hyoid bone morphology ( J:316198 )

• deformed

abnormal mandible morphology ( J:316198 )

• excessively curved which widens the distance between bilateral mandibular bones

abnormal mandibular angle morphology ( J:316198 )

• secondary cartilage is nearly missing

small mandibular condyloid process ( J:316198 )

• severely blocked or delayed

small mandibular coronoid process ( J:316198 )

• severely blocked or delayed

short mandible ( J:316198 )

micrognathia ( J:316198 )

abnormal gonial bone morphology ( J:316198 )

• deformed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Weissenbacher-Zweymuller syndrome		DOID:4258	OMIM:261800	J:316198